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419 Cards in this Set
- Front
- Back
What is aldolase deficiency?
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hereditary fructose intolerance. After introducing fructose - vomiting, hypoglycemia. Cirrhosis, hepatomegaly.
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What is galactosemia?
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Galactose-1-Phosphate uridyl transferase deficiency - causing neonatal jaundice, bleeding diathesis, feeding intolerance, decreased glucose, mental retardation, decreased BP.
Rx: quitting milk products Galactokinase deficiency - liver enlargement, MR, cataracts, increases serum galactose |
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What blot is for protein?
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Western
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What blot is for DNA?
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Southern
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What blot is for mRNA?
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Northern
|
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Key reactions for gluconeogenesis?
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pyruvate --> oxaloacetate --> phosphoenolpyruvate
|
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What needs to be targeted for PCR?
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primers flanking target DNA sequence
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Symptoms of cytochrome c oxidase deficiency include?
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weakness, hypotonia, encephalopathy
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amino acids with three titratable protons?
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histidine, arginine, lysine, aspartic acid, glutamic acid, cysteine, tyrosine
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What are the pkas for aspartic acid?
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1, 3.9, 9.9
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Pkas for tyrosine?
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2.2, 9.2, 10.5
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Pkas for histidine?
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1.8, 6, 9.2
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What word is used to describe tRNA anticodons binding different codons not necessarily the right ones?
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wobble
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What causes galactose to turn into galactitol?
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Aldose reductase. See this in galactosemia. Makes cataracts.
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What is sorbitol converted to in the seminal vesicles? What enzyme?
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To fructose via sorbitol dehydrogenase.
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What are glycogen deposits like?
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Clear vacuoles
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What are melanin deposits like?
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Dark brown - black pigments
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What is a cause of yellow-brown lipid peroxidase deposits?
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seen in Heart and liver. Cachectic and aging patients.
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What is the function of Kinesin? Dynein?
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Work with microtubules. Dynein also with cilia.
Kinesin = anterograde transport Dynein = retrograde transport |
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What is ataxia telangectasia?
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Defective ATM gene. See cerebellar ataxia, telangectasias, and sinopulmonary infections from low IgA. Due to mutation in DNA break repair gene. Autosomal Recessive
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What causes Lesch-Nyhan syndrome?
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Issue with HgPRT. X-linked. Hyperuricemia. Gout. MR. Self mutilating
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What is bare lymphocyte syndrome?
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No HLA Class II antigens expressed on APCs.
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What is Neimann-Pick disease?
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Autosomal recessive. Defective sphingomyelinase. No degradation. Dead monocytic cells. See hepatosplenomegaly, anemia, motor neuropathy, red spot on macula.
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What is heteroplasmy?
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Clinical variability in mitochondrial diseases because different amounts of mutated mtDNA are present
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What is Leber herreditary optic neuropathy?
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Mito disease. Get bilateral vision loss.
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What is myoclonic epilepsy with ragged red fibers?
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Mito dz. Mycolonic szs and myopathy with exercise.
|
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What is mitochondrial encephalpmyopathy with lactic acidosis and stroke like episodes?
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MELAS is a mito dz. See increase lactic acid and strokes.
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What causes Fragile X? Signs?
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Premutation. Increased trinucleotide leads to hypermethylation of cystein and subsequent gene inactivation.
Seem macroorchidism, large jaw, ears. |
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Cure for orotic aciduria?
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Give uridine. Large amounts will be converted to UMP blocking CPS II.
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What is BH4? What is it required for?
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Cofactor for tyrosine, DOPA, serotonin, nitric oxide. Made by dihydrobiopterin reductase.
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What mediates secondary structures for proteins?
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hydrogen bonds
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What is the difference in imprinting between Prader-Willi and Angelman syndrome?
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PW - hungry and thirsty - dad deletion
Angelman - happy puppet - mom deletion |
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What is Lesch-Nyhan syndrome associated with an increase of?
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De novo purine synthesis. So increased activity of PRPP synthase (5-phosphorybosyl-1-pyrophosphate synthetase).
LN is from defective purine salvage from HGPRT. |
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What is Ehlers-danlos syndrome?
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decreased procollagen peptidase. See stretchable skin, hypermotile joints, short stature.
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What is a substance released by macs that weakens plaques?
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MMPs
|
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What results from branched chain ketoacid dehydrogenase deficiency?
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Maple syrup urine disease
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What results from tyrosinase deficiency?
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albinism
tyrosine --> melanin |
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What happens if you are deficient in phenylalanine hydroxylase?
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PKU
converts phenylalanine --> tyrosine |
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What does Huntington Disease do to inactivate other genes?
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DNA hypermethylation
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What does DNA acetylation do?
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Activate gene transcription
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What does UV do to DNA?
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Thymidine dimerization
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What is pyridoxine needed for?
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Vitamin B6. Transamination and decarboxylation reactions. Also for gluconeogenesis.
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What is thiamine needed for?
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B1. Transketolase, alpha-ketoglutarate dehydrogenase, pyruvate dehydrogenase
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What is riboflavin needed for?
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Vitamin B2. Dehydrogenase like FMN and FAD.
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What is Niacin needed for?
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NAD and NAPD come from it.
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What is pellagra?
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Low B3. Dermatitis, dementia, diarrhea, then death.
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What is biotin needed for?
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Carboxylase reactions.
Pyruvate carboxylase, acetyl CoA carboxylase, propionyl CoA carboxylase, 3-methylcrotonyl CoA carboxylase |
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What does pyruvate dehydrogenase do?
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Brings pyruvate to TCA cycle through Acetyl CoA
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What does lactate dehydrogenase do?
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Brings pyruvate to make lactate
|
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What does pyruvate carboxylase do?
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Pyruvate back to gluconeogenesis through oxaloacetate
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What are snRNPs?
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synthesized by RNA polymerase II in the nucleus. Remove introns from RNA transcript and thus necessary for synthesis of mRNA
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What RNA processing changes RNA template to mRNA?
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RNA capping with methylated guanine at 5'
RNA polyadenylation with adenine nts to 3' RNA splicing by spliceosomes (made from snRNPs and proteins) |
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What type of inheritance is classical galactosemia?
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Autosomal recessive
|
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How does insulin mediate its effects?
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Turns on tyrosine kinase. Activates protein phosphatase 1- removes phosphate to activate glycogen synthase and also turns off fructose1,6 bisphosphonate to stop gluconeogenesis.
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Protein Kinase A is involved with what type of receptor?
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GPCR
|
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PLC is involved with what second messengers?
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Makes IP3 and DAG
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What is structure of chromatin?
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Negatively charged DNA loops twice around positively charged histone octamer.
Octamer consists primarily of lysine and arginine. |
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What is the only histone not in the nucleosome core?
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H1
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How is uracil made?
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deamination of cytosine
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Special group on guanine? Thymine?
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Guanine = ketone
Thymine - methyl |
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Amino acids necessary for purines?
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GAG
Glycine Aspartate Glutamine |
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Purine precursor?
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IMP
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Pyrimidine precursor?
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Orotate with PRPP
|
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What is carbamoyl phosphate?
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Involved in de novo pyrimidine synthesis and urea cycle. Ornithine transcarbamoylase deficiency (urea cycle) leads to accumulation of carbamoyl phosphate --> more orotic acid.
|
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What is orotic aciduria?
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Inability to convert orotic acid to UMP. Autosomal recessive.
Increased orotic acid in urine, megaloblastic anemia. |
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What is adenosine deaminase deficiency?
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Inability to convert adonesine to inosine. Leads to high levels of ATP and dATP that turn off riboncleotide reductase. Decrease lymphocyte count.
Cause of SCID |
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What is deficiency of HGPRT do?
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Lesch-Nyhan.
Can't convert guanine to GMP or hypoxanthine to IMP for purine salvage. Too much uric acid. |
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What is transversion?
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Sub purine for pyrimidine or vice versa.
|
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What does unambiguous mean?
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1 codon = 1 amino acid
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What does degenerate mean?
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Amino acids can be represented by more than one codon
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difference in origins of replications between prokaryotes and eukaryotes?
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Prokaryotes - single
Eukaryotes - multiple |
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What does helicase do?
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Unwind DNA template at replication fork
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What do single-stranded binding proteins do?
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Prevent strands from reannealing
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What does primase do?
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Make RNA primer for which RNA polymerase III can initiate replication
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Function of DNA polymerase III?
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Prokaryotic. Synth 5'-3'. Exonuclease proofreads 3'-5'.
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Function of DNA polymerase I?
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Degrades RNA primer and fills in gap with DNA. Excises RNA primer with 5'-3' exonuclease.
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Mechanism of nucleotide excision repair?
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Specific endonucleases release the oligonucleotide containing damaged bases. DNA polymerase and ligase fill and reseal.
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Mechanism for base excision repair?
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Specific glycosylases recognize and remove damaged bases, AP endonuclease cuts DNA at apyrimidinic site. Empty sugar removed, gap filled and resealed.
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Mechanism for mismatch repair.
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On unmethylated strand, remove mismatched nucleotides and gap is filled and resealed.
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What is mutated in xeroderma pigmentosum?
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Nucleotide excision repair
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What is mutated in HNPCC?
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Mismatch repair
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What part of incoming sugar bear Triphosphate? What part does it connect to?
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5' hydroxyl
3'hydroxyl |
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What direction is protein synthesized?
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N to C
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Three types of RNA? Which is most abundant? Smallest?
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ribosomal RNA - abundant
messenger RNA tRNA - smallest |
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Start codon?
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AUG
prokaryotes - fMET |
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mRNA stop codons
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U go away
U are away U are gone UGA, UAA, UAG |
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What is at the promoter region?
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Site where RNA polymerase and multiple other tfs bind to DNA. AT-rich upstream with TATA and CAAT boxes
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What does enhancer do?
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TFs can bind here to alter gene expression
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What does silencer do?
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Site where negative regulators bind
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Types of RNA polymerases?
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RNA polymerase I - rRNA
II - mRNA III - tRNA |
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What is alpha-aminitin?
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found in death cap mushrooms. Inhibits RNA polymerase II. Liver failure.
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Where does RNA processing happen? What does it entail?
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Nucleus
5' 7-methylguanosine cap 3' poly A tail splicing introns |
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How does splicing of pre-mRNA work?
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1) primary transcript combines with snRNPs and other proteins to form spliceosome
2) lariat-shaped intermediate is generated 3) lariat released to remove intron precisely and join 2 exons GU--------A----------------------AG |
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Structure of tRNA?
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75-90 nucleotides, secondary structure, cloverleaf form, anticodon end is opposite 3'aminoacyl end. Amino acid is bound to the 3'end.
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How is a tRNA charged with an amino acid?
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ATP hydrolysis by aminoacyl-tRNA synthetase.
ATP --> AMP Mischarge = correct codon reading but loads wrong amino acid. This bond has energy for peptide bond! |
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How does protein synthesis work?
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GTP hydrolysis activates it, with initaition factors assembling 40S subunit with initiator tRNA.
Elongation 1) Aminoacyl-tRNA binds A site = 1GTP->GDP 2) ribosomal rRNA catalyzes peptide bond formation, transferring growing polypeptide to amino acid in A site 3) Ribosome advances 3 nucleotides toward 3' of RNA, moving peptidyl RNA to P site. (1 GTP--GDP) |
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What is required for cell cycle to progress?
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CDKs which are always around, but phase specific cyclins
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What inhibits G1-to-S progression?
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Rb and p53
|
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What is the Rough ER?
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Site of synthesis of secretory proteins.
Mucus secreting goblet cells of SI and antibody secreting plasma cells rich in it. |
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What is I-cell disease?
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failure of addition of mannose-6-P to signal lysosome proteins. Results in enzymes secreted out of cell instead.
Result = coarse facial features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes. |
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What are the vesicular trafficking proteins?
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COPI = retrograde golgi to ER
COPII - anterograde RER to cis golgi Clathrin - trans Golgi - out |
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What is structure of microtubule?
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helical array of polmerized dimers of alpha and Beta tubulin. Each dimer has 2 GTP bound. Incorporated into flagella, cilia, mitotic spindles.
Grows slowly, collapses quickly. |
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What is Chediak-Higashi syndrome?
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Microtubule polymerization defect resulting in decreased phagocytosis.
Recurrent pyogenic infection, partial albinism, peripheral neuropathy |
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What powers cilia bending?
|
Axonemal dynein - ATPase linking peripheral 9 doublets
|
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What is Kartagener's syndrome?
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immotile cilia due to a dynein arm defect. Results in infertility, bronchiectasis, recurrent sinusitis. Associated with situs inversus.
|
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Where are actin and myosin found in the body?
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microvilli, muscle contraction, cytokinesis, adherens junctions
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Where are intermediate filaments found?
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vimentin, desmin, cytokeratin, GFAP, neurofilaments
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What decreases plasma membrane fluiditiy?
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high cholesterol or long saturated fatty acid content
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How does the sodium pump work?
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Na-K ATPase with ATP on cytoplasmic side. During cycle, pump phosphorylated.
3 Na, 2K. |
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What is ouabain?
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Inhibits Na-K ATPase on K side.
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Types of collagen?
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1) - skin bone , tendon
2) cartilage 3) reticular - bvs, uterus, granulation tissue 4) basement membrane |
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Describe collagen synthesis?
|
In fibroblast
1) Synthesis in RER - translation of collagen alpha chains - preprocollagen - Gly-X-Y 2) Hydroxylation (requiring vit C) of proline and lysine 3) Glycosylation of pro-alpha chain lysine residues to form procollagen (osteogenesis imperfecta) 4) export outside 1) cleavage of terminal regions of procollagen to make tropocollagen and not insoluble 2) crosslinking - lysine-hydroxylysine by lysyl oxidase to make collagen fibrils |
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What is Ehlers-Danlos syndrome?
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Either AD or AR. Type III collagen.
Hyperextensible skin, hypermotile joints, easy bruising |
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What is osteogenesis imperfecta?
|
Brittle bone disease.
Usu AD with type I collagen. Multiple fractures with minimal trauma, blue sclera due to translucency of connective tissue over choroid, hearing loss, dental imperfections from lack of dentin |
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Characterize Alport's syndrome?
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Variety of gene defects resulting in abnormal type IV collagen. Most common = X-linked recessive.
Hereditary nephritis and deafness. |
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What normally inhibits elastase?
|
alpha-antitrypsin
|
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Marfan's is a defect in?
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Fibrillin
|
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What are the PCR steps?
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Denaturation
Annealin (cooling) elongation (polymerization) |
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Describe Southern Blot.
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DNA electrophoresed. Transferred to a filter. Denatured. Exposed to labeled probe. DsDNA visualized.
|
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Describe Northern Blot.
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Similar to Southern. Involves radioactive DNA probe binding to sample RNA
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Describe western blot.
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Electrophorese some protein - labeled antibody on filter.
|
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Point of ELISA?
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Looking for antigens or antibody in patnet sample.
|
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How does FISH work?
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Fluorescent DNA or RNA probe binds to specific gene site of interest.
Used for specific localization of genes and direct visualization of anomalies at molecular level. |
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How does cloning work?
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Production of recombinant DNA molecule that is self perpetuating.
DNA fragments are inserted into bacterial plasmids that contain abx resistance genes. Selected by using media containing the antibiotic. Restriction enzymes cleave DNA at 4bp to 6bp sequences allowing for insertion of a fragment into a plasmid. Tissue mRNA ios isolated and exposed to reverse transcriptase, forming a cDNA library. |
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How does Sanger DNA sequencing work?
|
dideoxynucleotides halt DNA polymerization at each base, generating sequences of various lengths that encompass the entire original sequence.
Fragments are electrophoresed and from that the original sequence can be deduced. |
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What is RNAi?
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dsRNA complementary to mRNA. Knocks down gene expression.
|
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What is Cre-lox system used for?
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Inducible gene expression with antibiotic controlled promoter
|
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What is locus heterogeneity? Example?
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Mutations at different loci can produce the same phenotype.
Marfan's syndrome, MEN2B, homocystinuria all cause marfanoid habitus. |
|
What is pleiotropy?
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1 gene has > 1 effect on individual's phenotype
|
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Example of pleiotropy?
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PKU - many effects that don't necessarily seem related.
|
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Hardy-Weinberg law assumptions?
|
1) no mutation
2) no selection 3) random mating 4) no migration |
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What is hypophosphatemic rickets?
|
X LINKED DOMINANT.
Increased phosphate wasting at proximal tubule. |
|
Defect of achondroplasia?
|
Autosomal Dominant. Defect of FGF receptor 3.
|
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Defect of Autosomal-dominant polycystic kidney disease?
|
APKD1. Autosomal dominant. Bilateral. See berry aneurysms, possible mitral valve prolapse
|
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What is familial adenomatous polyposis?
|
Deletion on chromsome 5. APC gene.
|
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What is Familial hypercholesterolemia?
|
Autosomal dominant. Elevated LDL due to defective or absent LDLr. Homozygotes - tendon xanthomas.
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What is hereditary hemorrhagic telangectasia (Osler-Weber-Rendu syndrome)?
|
Autosomal Dominant. Inherited disorder of blood vessels. Findings: telangiectasia, recurrent epistaxis, skin discolorations, AVMs.
|
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What inheritance type is hereditary spherocytosis?
|
AD; spectrin or ankyrin defect
|
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Findings of Marfan's syndrome?
|
Fibrillin defect. Connective tissue disorder. Tall with long extremities, pectus excavatum, hyperextensive joints, aortic incompetence, dissecting aortic aneurysms.
|
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Inheritance of Tuberous sclerosis?
|
AD
|
|
Characterize tuberous sclerosis?
|
Facial lesions, hypopigmented ash leaf spots on skin, seizures, MR, renal cysts and angiomyolipomas
|
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Characteristics of von Hippel-Landau disease?
|
hemangioblastomas of retina/cerebellum/medulla - 1/2 with bilateral renal cell carcinoma. Deletion of VHL tumor suppressor on chromosome 3.
|
|
Characterize Cystic fibrosis?
|
CFTR. typically deletion of Phe 508. CFTR channel actively secretes Cl in lungs and GI tract and actively reabsorbs Cl from sweat.
Secretion of abnormally thick mucus that plugs lungs, pancreas, and liver. Pancreatic insufficiency. Pseudomonas, staph aureus infections. Meconium ileus. |
|
Treatment for CF?
|
NaC to loosen up mucus plugs by cleaving disulfide bonds.
|
|
What is inheritance of pathology of duchenne's MD?
|
X-linked frameshift mutation in dystrophin gene.
|
|
Characterize Fragile X?
|
Xlinked affecting methylation and expression of FMR1 gene.
Large jaw, large ears, autism, large testes. Mitral valve prolapse |
|
which diseases have trinucleotide repeat expansion diseases?
|
Huntington's
Myotonic Dystrophy Fragile X Friedrich's ataxia |
|
Characterize Trisomy 13 (Patau's syndrome child)?
|
cleft lip/palate, holoprosencephaly, polydactyly, microophthalmia
|
|
Characterize child with trisomy 18?
|
Micrognathia, clenched hands, low set ears
|
|
Characterize Williams Syndrome?
|
7 delection. Elfin facies, MR, high Ca, well developed verbal skills, extreme friendliness.
Sensitive to Vitamin D |
|
Characterize Cri-du-chat?
|
5p-. microcephaly, high pitched crying, epicanthal folds
|
|
Two types of 22q11 deletions?
|
DiGeorge - thymic, parathyroid, cardiac
Velocardiofacial - palate, facial, cardiac |
|
Which are more toxic? Fat soluble or water soluble vitamins?
|
Fat. They accumulate.
|
|
What do B-complex deficiencies result in?
|
dermatitis, glossitis, and diarrhea
|
|
Function of Vitamin A?
|
antioxidant; constituent of visual pigments. Essential for normal differentiation of epithelial cells into specialized tissue
|
|
Deficiency of Vit A?
|
Night blindness, dry skin
|
|
Excess Vitamin A?
|
arthralgias, fatigue, headaches, skin changes, alopecia.
Teratogenic. |
|
Function of B1 (thiamine)?
|
In TPP. Cofactor for -
Pyruvate dehydrogenase (glycolysis) alpha-ketoglutarate dehydrogenase Transketolase (HMP shunt) Branched-chain AA dehydrogenase |
|
Deficiency of B1?
|
Beriberi.
Impaired glucose breakdown --> ATP depletion. Aerobic tissues like heart and muscsle affected first. Wernicke-Korsakoff syndrome Dry beriberi - polyneuritis, symmetric muscle wasting Wet beriberi-high output cardiac failure, edema |
|
Function of B2 (riboflavin)?
|
Cofactor in oxidation and reduction
FAD and FMN |
|
Deficiency of B2?
|
Cheilosis (inflamm of lips and fissures), Corneal vascularization
|
|
Function of B3 (niacin)?
|
Constituent of NAD+, NADP+
Derived from Tryptophan Synthesis requires B6 |
|
Deficiency of vitamin B3?
|
Niacin.
glossitis. Severe - pellagra maybe to Hartnup (bad tryptophan absorption) Malignant carcinoid syndrome (increased W metabolism) INH (decreased vit 6) |
|
Excess vitamin B3?
|
Niacin.
Facial flushing. |
|
Function of vitamin B5?
|
Pantothenate. Essential component of CoA and fatty acid synthase
|
|
Deficiency of Vitamin B5?
|
Dermatitis, enteritis, alopecia, adrenal insufficiency
|
|
Function of vitamin B6 (pyridoxine)?
|
Converted to pyridoxal phosphate, cofactor used in transamination (ALT and AST), decarboxylation reactions, glucose phosphorylase, cystathionine synthesis, heme synthesis.
|
|
Deficiency of Vitamin B6?
|
convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemias
|
|
Deficiency of Vit B12?
|
Megaloblastic anemia, neurologic symptoms from abnormal myelin.
|
|
Function of vitamin B12?
|
cofactor for homocysteine methyltransferase and methymalonyl CoAmutase
|
|
What is S-adenosyl methionine?
|
transfers methyl units = methionine + ATP.
Regeneration of methionine and SAM dependent on B12 and folate. Required for conversion of NE to epinephrine. |
|
What is biotin?
|
Cofactor for CARBOXYLATION enzymes.
Pyruvate carboxylase Pyruvate -->oxaloacetate Acetyl-CoA carboxylase Acetyl-CoA --> malonyl-CoA Propionyl-CoA carboxylase Propionyl-CoA --> methylmalonyl-CoA |
|
Deficiency in biotin?
|
Rare.
See dermatitis, alopecia, enteritis. Caused by antibiotic use OR excess raw eggs (avidin in egg whites binds avidly to biotin) |
|
Function of Vit C?
|
1) Facilitates Iron absorption by keeping iron in Fe2+ reduced state
2) Hydroxylation of proline and lysine in collagen synth 3) Necessary for dopamine B-hydroxylase, converts dopamine to NE |
|
Storage form of Vit D?
|
25-OH D3
|
|
Sarcoidosis and hypercalcemia link?
|
Has increased activation of vitamin D by epithelioid macrophages
|
|
Function of Vitamin E?
|
for ERYTHROCYTES.
Antioxidant. Protects erythrocytes and membranes from free-radical damage. |
|
Deficiency of Vitamin E?
|
increased fragility of erythrocytes. Hemolytic anemia.
Muscle weakness, neurodysfunction. |
|
Function of Vitamin K?
|
Catalyzes gamma-carboxylation of glutamic acid residues on various proteins concerned with blood clotting.
|
|
Deficiency of Vitamin K?
|
Neonatal hemorrhage with increased PT and aPTT. Normal bleeding time. Also occurs with long use of antibiotics.
|
|
For which factors is Vitamin K necessary?
|
II, VII, IX, X, protein C and S
|
|
Function of zinc?
|
Activity of enzymes. Zinc fingers (transcription factor motif)
|
|
Deficiency of zinc leads to?
|
Delayed wound healing. Anosmia. Deecreased adult hair. Hypogonadism.
|
|
How does disulfiram act?
|
Inhibits acetaldehyde dehydrogenase. Accumulation of acetaldehyde = hangover
|
|
What is action of fomepizole?
|
Inhibits alcohol dehydrogenase
|
|
How does ethanol hypoglycemia work?
|
To recoup the NAD+ shift pyruvate to lactate, and OAA to malate. Inhibiting gluconeogenesis and stimulating fatty acid synthesis.
Leads to hypoglycemia and fatt liver. |
|
Difference between kwashiorkor and marasmus?
|
Kwashiorkor = protien. Malnutritoin, edema, anemia, fatty liver from decreased apolipoprotein synthesis. Swollen belly.
Marasmus - muscle wasting. |
|
What metabolic process happens in the mitochondria?
|
Fatty acid oxidation, acetyl-CoA production, TCA cycle, ox phos
|
|
What metabolic process happens in the cytoplasm?
|
Glycolysis, fatty acid synthesis, HMP shunt, protein synthesis, steroid synthesis
|
|
What processes happen in both mitochondira and cytoplasm?
|
Heme synth, urea cycle, gluconeogenesis
HUGs |
|
What type of process is NAD+ used for?
|
Catabolic. Carries reducing equivalents away as NADH.
|
|
What processes are NADH used for?
|
Anabolic.
Respiratory burst, P-450, Glutathione reductase |
|
First step of glycolysis?
|
Glucose --> Glucose-6-P
either by hexokinase or glucokinase |
|
Differences between glucokinase and hexokinase?
|
Glucokinase is in liver or pancreas. No feedback inhibition. Allows liver to sequester glucose in it. Low affinity, high Vmax.
|
|
Rate limiting step of Glycolysis?
|
Frucotse 6-P --> Fructose 1,6,-BP
Phosphofructokinase-1 |
|
Steps of glycolysis requiring ATP?
|
Glucose --> Glucose 6P
Fructose-6P --> F-1,6-BP |
|
Stages of glycolysis generating ATP?
|
Phosphoenolpyruvate --> Pyruvate (Pyruvate kinase)
1,3-Bisphosphoglycerate --> 3-phosphoglycerate |
|
Negative regulators of pyruvate kinase? Positive?
|
Alanine, ATP
Fructose 1,6-BP |
|
What enzyme is most reponsible for glycolytic enzyme deficiency leading to hemolytic anemia?
|
Pyruvate kinase - can no longer maintain Na-K ATPase
|
|
Reaction of Pyruvate dehydrogenate complex?
|
Pyruvate + NAD + CoA --> Acetyl-CoA + NADH + CO2
|
|
Essential cofactors required for pyruvate dehydrogenase?
|
B1 - thiamin - TPP
B2 - riboflavin - FAD B3 - niacin - NAD B5 - pantothenate - CoA Lipoic acid |
|
What activates pyruvate dehydrogenase?
|
Increased ADP, Ca, NAD/NADH ratio (all exercise related)
|
|
Mechanism of arsenic?
|
Inhibits lipoic acid, essential for pyruvate dehydrogenase
|
|
Deficiency of pyruvate dehydrogenase?
|
back up of pyruvate and alanine = lactic acidosis.
|
|
Treatment of pyruvate dehydrogenase deficiency?
|
Lysine and Leucine = purely ketogenic amino acids. Or high fat content foods.
|
|
Function of Cori cycle?
|
allows lactate generated during anaerobic metabolism to undergo hepatic gluconeogenesis and become a source of glucose for muscle/RBCs
|
|
Net cost of Cori cycle?
|
4 ATP
|
|
Mnemonic for TCA cycle?
|
Citrate Is Krebs Starting Substrate For Making OAA
Citrate, isocitrate, alpha-ketoglutarate, succinyl-CoA, succinate, fumarate, malate, Oxaloacetate |
|
Rate-limiting enzyme for TCA cycle?
|
Isocitrate dehydrogenase
|
|
ATP is generated where in Citric acid cycle?
|
In the matrix (totally inside)
|
|
Where does NADH enter ETC? FADH2 enter?
|
NADH enters complex 1 - generates 1 H
FADH2 - enters complex II (succinate dehydrogenase) - no H+ both go to CoQ then to cytochrome C and generate 2 more complex V powers the ATP synthase |
|
Examples of Electron Transport inhibitors?
|
Rotenonen, CN-, antimycin A, CO
|
|
ATPase inhibitor for ETC and ox phos?
|
Oligomycin. ETC stops, no ATP made. Increased proton gradient.
|
|
Uncoupling agents? function?
|
Increase permeability, decreasing proton gradient. Increased O2 consumption. Makes heat.
|
|
Required for action of pyruvate carboxylase?
|
Biotin, ATP. Activated by Acetyl-CoA
|
|
What are the key gluconeogenic enzymes?
|
glucose-6-phosphatase, fructose 1,6 bisphosphoatase, PEP carobxykinase, Pyruvate carboxylase
|
|
What does deficiency in gluconeogenic enzymes cause?
|
Hypoglycemia.
|
|
How can odd-chain fatty acids serve as gluconeogenic?
|
Yielding 1 propionyl CoA. Converted in end to succinyl-CoA. Undergoes gluconeogenesis.
Even chains can only yield Acetyl-CoA which can't go back. |
|
Purpose of HMP shunt? (pentose phosphate pathway)
|
Provide source of NADPH from an abundantly available G-6P.
Also yields ribose for nt synthesis. Both occur in cytoplasm. Sites: lactating mammary glands, liver, adrenal cortex, RBCs |
|
What is NADPH required for?
|
Reductive reactions - like glutathione reduction inside RBCs.
|
|
Rate limiting step of gluconeogenesis?
|
Fructose 1,6 bisphosphatase
|
|
Rate limiting step of HMP shunt?
|
G6PD
|
|
What enzyme is important for Respiratory burst? Lost in people with Chronic granulomatous disease?
|
NADPH oxidase.
|
|
What species of bacteria are CGD patients worried about?
|
S aureus, aspergillus. Catalase positive species.
|
|
Etiology of G6PD deficiency?
|
Decreased NADPH - can't detoxify free radicals and peroxides. Oxidizing agents like primaquine, sulfonamides, fava beans kill it.
See Heinz bodies and bite cells. |
|
What is most common human enzyme deficiency?
|
G6PD. X linked recessive
|
|
Etiology for fructose intolerance?
|
Hereditary deficiency of aldolase B. Autosomal recessive. Fructose 1-P accumulates. Decrease in available phosphate - inhibits glycogenolysis and gluconeogensis.
|
|
Defect with essential fructosuria?
|
Fructokinase. Autosomal recessive. But fructose can't enter cells!
|
|
Symptoms of fructose intolerance?
|
Hypoglycemia, jaundice, vomiting, cirrhosis
|
|
Symptoms of essential fructosuria?
|
Fructose in urine and blood
|
|
Treatment for fructose intolerance?
|
Decrease intake of fructose and sucrose
|
|
Defect of classic galactosemia?
|
Absence of galactose-1-P uridyltransferase. Autosomal recessive. Damage caused by accumulation of toxic substances.
|
|
Symptoms and treatment for classic galactosemia?
|
Failure to thrive, jaundice, hepatomegaly, infantile cataracts (galactitol), mental retardation
Rx: galactose and lactose exclusion |
|
Etiology of galactokinase deficiency?
|
autosomal recessive loss of galactokinase. Galactitol can accumulate if galactose in diet.
|
|
Symptoms of galactokinase deficiency?
|
Galactose in blood and urine, infantile cataracts.
|
|
What sites have sorbitol dehydrogenase? what don't?
|
With - seminal vesicles, liver, ovaries
With out - eyes, kidneys, Schwann cells |
|
What mediates damage from sorbitol?
|
Osmotically active. Cells get osmotic damage when water enters.
|
|
What does niacin need for its synthesis?
|
Tryptophan and B6
|
|
Which are the glucogenic essential amino acids?
|
Met, Val, Arg, His
|
|
What are the essential glucogenic/ketogenic amino acids?
|
Ile, Phe, Thr, Trp
|
|
What are the essential amino acids,
|
Met, Val, Arg, His, Ile, Phe, Thr, Trp, Leu, Lys
|
|
What amino acids are required for periods of growth?
|
Arg and His
|
|
Where do the molecules in urea come from?
|
NH4, CO2, aspartate
|
|
Mechanism behind hyperammonemia?
|
Excess NH4, depleting alpha-ketoglutarate. Leads to inhibition of TCA cycle.
|
|
Treatment for hyperammonemia?
|
Limit protein in diet. Benzoate or phenylbutyrate may be given to decrease ammonia levels.
|
|
What is Ornithine transcarbamoyl deficiency?
|
Most common urea cycle disorder.
X linked recessive. OTHERS ARE AUTOSOMAL RECESSIVE. Excess carbamoyl phosphate converted to orotic acid instead. Findings: orotic acid in blood and urine, Decreased BUN, symptoms of hyperammonemia |
|
treatment of Phenylketonuria?
|
Decreased Phe, increase Tyr (now essential amino acid!)
|
|
What is alkaptonuria?
|
Deficiency of homogentisic acid oxidase in degradative pathway of tyrosine. Autosomal recessive. Benign.
|
|
Signs of alkaptonuria?
|
Dark connected tissue, Pigmented sclera, urine turns black. Maybe arthralgias
|
|
Other than congenital deficiency what embrological issue can lead to albinism?
|
Lack of migration of neural crest cells.
|
|
What deficiencies can lead to albinism?
|
Tyrosinase - autosomal recessive - inability to synth melanine from tyrosine
Defective tyrosine transporters (decreased amounts of tyrosine and melanin) |
|
Three causes for homocystinuria?
|
Cystathione synthase deficiency
Decreased affinity for cystathionine synthase for pyrixal phosphate Homocysteine methyltransferase deficiency |
|
Findings for homocystinuria?
|
Increased homocysteine in urine, MR, osteoporosis, tall stature, kyphosis, lens subluxation.
|
|
Etiology of cystinuria?
|
Defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine in PCT of kidneys.
Excess = cystine kidney stones |
|
What is treatment for cystinuria?
|
Acetazolamide to alkalinize urine
|
|
Pathology of Maple Syrup Urine disease?
|
Blocked degradation of branched amino acids. (Ile, Leu, Val). Decreased due to low alphaketoacid dehydrogenase. Causes increased alpha-ketoacids in the blood esp Leu.
|
|
Pathology of Hartnup disease?
|
AR disorder - defective neutral amino acid transporter on renal and intestinal epithelial cells.
Tryptophan excess excretion in urine. Pellagra |
|
Mechanism of Glucagon?
|
Activates AC. Increased cAMP. Turns on PKA. Turns on glycogen phosphorylase kinase. Turns on glycogen phosphorylase.
|
|
Mechanism of Insulin?
|
Turns on protein phosphatase. Inactivates glycogen phosphorylase kinase and glycogen phosphorylase.
|
|
What two things activate glycogen phosphorylase kinase?
|
Ca/Calmodulin in muscle and glucagon
|
|
Links of glucose on glycogen have what bond? Branches?
|
Links = 1,4
Branches = 1,6 |
|
Etiology of Von Gierke's disease?
|
No Glucose-6 phosphatase.
Severe fasting hypoglycemia, increased glycogen in liver, increased blood lactate, hepatomegaly |
|
What is Pompe's disease?
|
Type II
No lysosomal alpha-1,4-glucosidase. See cardiomegaly and systemic findings to death. |
|
What is cori's disease?
|
Type III.
Milder form of Type 1. Normal blood lactate. Lack of debranching enzyme. |
|
What is McArdle's disease?
|
Increased glycogen in muscle, but cannot break it down - painful muscle cramps, myoglobinuria with strenuous exercise.
Defect in skeletal muscle glycogen phosphorylase. |
|
Characterize Fabry's disease?
|
Deficient in alpha-galactosidase A. Xlinked Recessive.
Build up of Ceramide trihexoside. Peripheral neuropathy of hands/feet, angiokeratomas, CV/renal disease |
|
Characterize Gaucher's disease?
|
Most common. Deficient in Beta-glucocerebrosidase.
Build up of glucocerebroside Findings - hepatosplenomegaly, aseptic necrosis of femur, bone crises, macrophages that look like crumpled tissue paper |
|
Characterize Niemann-Pick disease?
|
Deficient in sphingomyelinase.
Increased sphingomyelin. Progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells. |
|
Characterize Tay-Sachs disease
|
Defect in Hexoaminidase A
Increased GM2 ganglioside Findings - progressive neruodegeneration, devo delay, cherry red spot with macula, onion skin lysosomes, no hepatosplenomegaly!!!! |
|
Characterize Krabbe's disease?
|
Peripheral neuropathy, devo delay, optic atrophy, globoid cells
Deficient in galactocereberosidase Increased galactocerebroside |
|
Pathology of Metachromatic leukodystrophy?
|
Central and peripheral demyelination with ataxia, dementia
Deficient enzyme = arylsulfatase A. Buildup = heparan sulfate, dermetan sulfate |
|
Hunter's syndrome.
|
X LINKED RECESSIVE.
Deficient enzyme = iduronate sulfatase Accumulated heparan sulfate, dermatan sulfate Mild Hurler's plus aggressive behavior. No corneal clouding. |
|
What is Hurler's syndrome?
|
Defect in alpha-L-iduronidase
Accumulated substrate - heparan sulfate, dermatan sulfate Devo delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly |
|
What results from Carnitine deficiency?
|
inability to transport LCFAs into the mitochondria, resulting in toxic accumulation.
Weakness, hypotonia, HYPOKETOTIC HYPOGLYCEMIA. |
|
What is Acyl-CoA dehydrogenase deficiency?
|
Increased dicarboxylic acids, decreased glucose and ketones
|
|
What are fatty acids and amino acids metabolized to in the liver?
|
acetoacetate and Beta-hydroxybutyrate
|
|
What is depleted in startvation and DKA to make gluconeogenesis?
|
Oxaloacetate
|
|
When TCA cycle is stalled during alcoholism or starvation/DKA, what are glucose and FFA shunted towards?
|
Ketone bodies
|
|
What are ketone bodies made from ?
|
HMG-CoA.
|
|
What are energy sources for 100 meter sprint?
|
Stored ATP, creatine phosphate, anaerobic glycolysis
|
|
What are energy sources for 1000 m run?
|
Stored ATP, creatinine phosphate, anaerobic glycolysis
also OX PHOS |
|
What are energy sources for marathon (hours)?
|
Glycogen and FFA oxidation; glucose conserved for final sprinting
|
|
What maintains body during days 1-3 of fasting?
|
1) Hepatic glycogenolysis and glucose release
2) Adipose release of FFA 3) Muscle and liver shifting fuel use from glucose to FFA 4) Hepatic gluconeogenesis from peripheral tissue lactate and alanine, and from adipose tissue glycerol and propionyl-CoA from odd-chain FFA metabolism. |
|
What maintains body after day 3 of fasting before several weeks?
|
Muscle protein loss maintained by hepatic formation of ketone bodies
|
|
What is rate-limiting step in Cholesterol synthesis?
|
HMG-CoA reductase
|
|
What are the essential fatty acids?
|
Linoleic and linolenic acid
|
|
What becomes an essential fatty acid if linoleic acid isn't present?
|
Arachidonic acid
|
|
Rate limiting enzyme for glycogen synthesis?
|
Glycogen synthase
|
|
Rate limiting enzyme for glycogenolysis?
|
Glycogen phosphorylase
|
|
Rate limiting step for de novo pyrimidine synthesis?
|
Carbamoyl phosphate synthetase II
|
|
Rate limiting step for de novo purine synthesis?
|
Glutamine-PRPP amidotransferase
|
|
Rate limiting step for urea cycle?
|
Carbamoyl phosphate synthetase I
|
|
Rate limiting enzyme for fatty acid synthesis?
|
Acetyl-CoA carboxylase ACC
|
|
Rate limiting enzyme for fatty acid oxidation?
|
Carnitine acyltransferase I
|
|
Rate limiting enzyme for Ketogenesis?
|
HMG-CoA synthase
|
|
What does Lipoprotein lipase do?
|
Degradation of TG circulating in chylomicrons and VLDLs
|
|
What does Hepatic TG lipase do?
|
Degradation of TG remaining in IDL
|
|
What does Hormone-sensitive lipase do?
|
Degradation of TG stored in adipocytes
|
|
What does LCAT do?
|
Catalyzes esterification of cholesterol
|
|
What does CETP do?
|
Mediates transfer of cholesterol esters to other lipoprotein particles
|
|
What is A-1 lipoprotein?
|
Activates LCAT
|
|
What is Apo b-100?
|
Binds to LDL receptor, mediates VLDL secretion
|
|
What is Apo C-II?
|
Cofactor for LPL
|
|
What is Apo B-48?
|
Mediates chylomicron secretion
|
|
What is Apo E?
|
Mediates Extra remnant uptake
|
|
What is a chylomicron?
|
delivers dietary TGs to peripheral tissue. Delivers cholesterol to liver in the form of chylomicron remnants, which are mostly depleted of their triacylglycerols. Secreted by intestinal epithelial cells.
|
|
What is VLDL?
|
Delivers hepatic TGs to peripheral tissue.
|
|
What is IDL?
|
Formed in degradation of VLDL. Delivers TGs and cholesterol to liver, where they are degraded to LDL.
|
|
What is LDL?
|
Delivers hepatic cholesterol to peripheral tissues. Formed by LPL modification of VLDL in the peripheral tissue. Taken up by target cells via receptor-mediated endocytosis.
|
|
What is HDL?
|
Mediates reverse cholesterol transport form periphery to liver. Acts as a repository for apoC and apoE (needed for chylomicron and VLDL metabolism). Secreted from both liver and intestine.
|
|
Apolipoproteins associated with chylomicron?
|
B-48, A-IV, C-II, E
|
|
Apolipoproteins associated with VLDL?
|
B-100, C-II, E
|
|
Apolipoproteins associated with IDL?
|
B-100 and E
|
|
Apolipoproteins associated with LDL?
|
B-100
|
|
Etiology of type I dyslipidemia/hyperchylomironemia?
|
Increased chylomicrons leading to elevated TGs and cholesterol.
Due to LPL deficiency or C-II issues. Causes pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthoma. |
|
What is familial hypercholesterolemia?
|
Increased LDL. With high cholesterol in blood.
Autosomal Dominant. Absent or decreased LDL receptors. Accelerated atherosclerosis. Tendon xanthomas, corenal arcus |
|
What is hypertriglyceridemia?
|
Increased VLDL with high TGs in blood. Hepatic overproduction of VLDL. Causes pancreatitis.
|
|
What is abetalipoproteinemia?
|
Hereditary inability to synthesize lipoproteins due to deficiencies in apoB-100 and apoB-48. Autosomal recessive. Symptoms appear early in life. Intestinal bx shows accumulation w/in enterocytes due to inability to export absorbed lipid as chylomicrons.
Night blindness, failure to thrive, steatorrhea, acanthocytosis, ataxia |
|
What is the problem with maple syrup urine disease?
|
Decreased alpha-ketoacid dehydrogenase. Increased alpha keto acids. Cut out ILV. Ile, Leu, Val
|
|
Gilbert's and Crigler-Naijar are issues with?
|
UDP glucoronyl transferase
|
|
Vitamin for treating measles?
|
A
|
|
Defect in xeroderma pigmentosum?
|
Endonuclease
|
|
HNPCC defect?
|
3'-5' exonuclease (proofreading)
|
|
What is a homeobox?
|
Transcription regulator binder.
|
|
What does releasing factor do?
|
Recognizes stop codons and facilitates release of polypeptide chain and dissolution of ribosome and mRNA
|
|
What does transcription factor II D do?
|
binds at TATA box 25bp upstream
|
|
What does elongation factor do?
|
tRNA binding and translocation
|
|
What is galactosyl B 1,4 - glucose? Enzyme that converts it to galactose?
|
Lactose.
Beta-galactosidase |
|
Why is DNA replication so fast in eukaryotic cells?
|
Multiple origins of replication
|
|
When PLC operates, what messengers/ions go up?
|
IP3 and DAG.
Calcium. |
|
What is the order of enzyme operations for base excision repair?
|
Glycosylase, endonuclease, lyase, DNA polymerase, ligase
|
|
Where do the first and last three steps of heme synthesis occur?
|
Mitochondria
|
|
What is FAS?
|
used for apoptosis
|
|
What is FAS' relationship with apoptosis?
|
mutated gene, doesn't allow elimiation of cells
|
|
What disorder does mousy odor, eczema, and MR suggest?
|
PKU
|
|
What do you call RNA before adding the cap and tail?
|
hnRNA
|
|
What diseases has abs against snRNPs?
|
Lupus
|
|
What are Nissl bodies?
|
RER from neurons
|
|
What cells have a lot of SER?
|
liver hepatocytes, steroid producing cells
|
|
What actions does the Golgi apparatus do to proteins?
|
Modify N-oligo to asparagine
Add O-oligo to S/T |
|
Where does M6P take proteins?
|
Lysosome
|
|
Vimentin stain is indicative of?
|
connective tissue
|
|
What type of collagen is messed up with Ehlers Danlos?
|
III
|
|
Osteogenesis imperfecta details?
|
AD, blue sclera, hearing loss, type II, see fractures
|
|
Elastin is rich in?
|
Proline and glycine. Nonglycosylated
|
|
What happens to 45S rRNA in eukaryotes?
|
Becomes 18S and 28S
|
|
Decreased vit D leads to bone deposition where?
|
Osteoid bone
|
|
Lipofuscin increases with?
|
Age
|
|
What promotes differentiation in cells?
|
Transcription factors
|
|
What is Peutz-Jeghers condition?
|
AD. see pigmented mucocutaneous macules and hamartomous polyps in GI tract.
|
|
With branched chain amino acids where do they go? What vitamin do they require?
|
Need B1.
Leucine = Acetyl-CoA Valine and Ile - propionyl CoA |
|
Seeing fasting hypoglycemia after a day indicates issues with?
|
Acyl-CoA dehydrogenase
|
|
Purpose of RAS?
|
signal transmission from cell membrane to nucleus
|
|
Chemical changes you expect with DKA?
|
Increased glucose, increased K, decreased Na
decreased NA from osmotic diuresis Fruity breath |
|
Where does MAO enzyme work?
|
Mitochondria
|
|
What provides structural anchoring for carboxyl tails?
|
Palmitoylation
|
|
Difference in tissue operation for CFTR?
|
Skin - normally supposed to absorb
Pancreas - normally supposed to secrete |
|
Albright syndrome is?
|
End-organ resistance to PTH. See small pinky finger.
|
|
If protein doesn't have signal sequence where does it go?
|
Cytosol
|
|
G-CSF causes increased?
|
Neutrophils
|
|
How is it a bacteria could lose resistance?
|
Lose plasmid
|
|
Differentiating B12 and B1 deficiency?
|
B1 - leethargic after eating meal, polyneuritis
B12 - dorsal column demyelination |
|
Food for muscles after 2 days?
|
Serum FFA
|
|
Source of cell Calcium?
|
ER
|
|
Mutation in a connexon would be from what region?
|
Transmembrane
|
|
DNA laddering is a sign of what?
|
180bp signifiies fragments from endonucleases. DNA fragmentation
|
|
action of grapefruit juice?
|
Inhibits CYP3A enzyme of cyt P450 system. Increases levels of cyclosporine
|
|
When to consider germline mosaicism?
|
Parents aren't affected. Children are.
|
|
What do Desmosomes rely on for cell to cell adhesion?
|
Cadherins
|
|
Amylase levels go up with/
|
Pancreatitis, lung adenocarcinoma, esophageal rupture
|
|
Increased phenylacetic acid in urine with?
|
PKU
|
|
Do prokaryotes have introns in their genes?
|
No
|
|
Petechiae, swollen gingiva, and ecchymoses suggest?
|
Vit C deficiency
|
|
What type of bacterial acquisition of genes would be susceptible to a DNAse?
|
Transformation
|
|
Drinking ethylene glycol would do?
|
Anion gap, make Ca oxalate stones, oliguria, hematuria, back pain
|
|
Characteristic of elastin providing elasticity?
|
Lysine residues that have desmosine cross links betwee four strands
|
|
Mucus glands and CFTR relationship with Na?
|
Less Cl secretion so more Na and H2O absorption.
|
|
Another way to detect CFTR?
|
nasal transepithelial potential difference
|
|
Can biliary obstruction lead to Vit A deficiency?
|
Yes
|
|
Mechanism for Rat poison? Remedy?
|
Vit K antagonist. Give FFP.
|
|
Presentation of carnitine deficiency?
|
Myoglobulinuria, weakness with exercise, increased Muscle TGs, decreased ketones. Also decreased acetoacetate
|
|
What is a penicillin binding protein?
|
Transpeptidase
|
|
What type of enzyme is the one that convertes MMA to Succinyl CoA?
|
Isomerase
|
|
Apo functions?
|
A-1 = LCAT for HDL
B-48 = chylomicron assembly B-100 = LDL uptake by extrahepatic cells 3 and 4 = VLDL and chylo remnant uptake by liver |
|
Lipoic acid is needed for ?
|
Pyruvate DH and ALpha-ketoglutarate DH and branched chain - DH
|
|
Branched chain amino acids? where do they go?
|
Valine and Ile - Propionyl CoA
Leu - Acetyl-coA |
|
Determinants of diffusion?
|
Concentration, surface area, solubility
inversely proportional to thickness and molecular weight |
|
Collagen most important amino acid?
|
Glycine
Gly-X-Y |
|
What does adding glucose do to the lac operon?
|
Decreases cAMP production with decreased AC. Poorer binding of CAP. Decrease lac operon expression.
|
|
Wilson's disease clues?
|
Decreased ceruloplasmin from ATP7B mutation. See hepatitis/cirrhosis, neuro gait issues. Increased Cu in liver bx. Kayser-Fleishcer rings seen with slit lamp.
|
|
Maple syrup urine disease responds to?
|
B1 levels.
|
|
Vitamin important for transamination?
|
B6. Low can cause sideroblastic anemia.
|
|
What is intrinsic cell pathway for apoptosis?
|
Cyt c
|
|
What are telomerases?
|
Confer longevity (like to cancer)
|
|
Vitamin E deficiency causes?
|
Neuromuscular issues and hemolytic anemia
|
|
Homocystinuria can respond to what vitamin?
|
B6. Those people can have many thromboembolic events
|
|
Phosphoglycerate mutase makes?
|
2,3 BPG
|
|
Fabry pts die from?
|
Renal failure
|
|
Operation of N-acetylcysteine?
|
cleaves sulfide bonds
|
|
What controls lac operon on/off?
|
Operator and repressor.
Lactose = inducer. |
|
Radiation therapy causes?
|
dsDNA breaks.
|
|
UV light causes to DNA?
|
pyrimidine-pyrimidine dimer
|
|
Li Fraumeni features?
|
p53 issue. See osteosacroma, brain tumors, adrenal tumors of cortex, breast tumors.
|
|
Rb features?
|
Retinoblastoma and osteosarcoma
|
|
What histone is outside nucleosome core?
|
H1
|
|
Without subunits what does Hb look like?
|
myoglobin curve
|
|
What malignancy can lead to high niacin levels? High vitamin D
|
Carcinoid
Sarcoid |
|
Enzyme absent in Crigler Najar/Gilbert?
|
UDP-Glucoronyl transferase
|
|
HMP shunt uses?
|
Fatty acid biosynth, cholesterol, drug metabolism, steroid biosynthesis
|
|
Kartagener's features?
|
Infertility, situs inversus, chronic respiratory infxns, dynein arm issues.
|
|
What regulates Fe levels in the body?
|
Intestinal epithelial cells
|
|
16sS RNA does what?
|
Shine Delgarno complement for mRNA
|
|
23S rRNA is for?
|
Part of 50S. Peptide bond formation
|
|
Niacin side effect is mediated by?
|
Prostaglandins. so take it with an aspirin
|
|
Cell signals invovled with Map KINAse?
|
RAS and GTP
|
|
Carnitine deficiency manifests as?
|
Myoglobinemia, weakness, high TGs, low ketones
|
|
Important cell cycle breakpoint?
|
phosphorylation of rb and release of E2F transcription factor
|
|
Organ specific amyloidoses?
|
cardiac = ANP
Thyroid = calcitonin pancreatic = amylin cerebrum = Beta-amyloid Pituitary gland = prolactin |
|
Rapid metabolism of frutose?
|
Bypasses PFK1 (fructose, 2,6). goes straight to GAP
|