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60 Cards in this Set

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involve a deficiency in acid sphingomyelinase—(ASM) – important in degrading membranes in lysosome; Autosomal recessive
Neiman Pick Disease
Type ?? Neiman Pick Disease associated with neurological tissues and usually causes death within 2-3 years
Neiman Pick Type A disorder
Type ?? Neiman Pick Disease where symptoms: enlarged spleen, respiratory problems, cardiovascular problems, can live into adulthood
Neiman Pick Type B disorder
Cholesterol accumulates in late endosomes which also appear expanded. It is “stuck in traffic” and can’t get out of the endosomes
Nieman-Pick Type C disorder
group of conditions in which fetal hemoglobin synthesis is not terminated at birth but continues into adulthood; Hoogsteen Base Pairing Problems
Hereditary persistence of fetal hemoglobin
Disease identified in newborns that is caused by a deficiency in the enzyme phenylalanine hydroxylase.
Results in the accumulation of phenylpyruvate (a phenylketone) in the bloodstream.
If untreated, mental retardation will result.
Treated with a low phenylalanine diet.
Phenylketonuria
Hoogsteen Base Pairing Problems;is a group of conditions in which fetal hemoglobin synthesis is not terminated at birth but continues into adulthood; The condition results from failure to stop transcription of human Gγ- and Aγ-globin genes, leading to elevated levels of fetal hemoglobin. The formation of an intramolecular DNA triple-helical structure located about 200 bp upstream from the initiation site for transcription of the γ-globin genes (between positions −194 and −215) acts as a brake for their expression
Hereditary persistence of fetal hemoglobin (HPFH)
used to treat metastatic testicular, ovarian, and a wide variety of other cancers, cross-links DNA. Among the serious side effects of cisplatin are bone marrow depletion, severe kidney impairment, and loss of hearing and balance.
Cisplatin
the first disease demonstrated to be caused by defective DNA repair. Patients are photosensitive and highly susceptible to skin cancers in sun-exposed areas of the body; rates of skin cancer are 2000–5000-fold higher than average. Many patients also have neurological problems.

It's is a rare, autosomal recessive disease that can be caused by defects in any of eight different genes, reflecting the complexity of DNA repair of pyrimidine dimers, the most common damage introduced by exposure to ultraviolet light. Mutations in seven of the genes lead to defects in the initial incision step in nucleotide-excision repair of pyrimidine dimers.
Xeroderma Pigmentosum
Xeroderma Pigmentosum encode proteins that function as subunits of ???, a general transcription factor that is also required for transcription-coupled DNA repair.
TFII-H
is an antimetabolite that inhibits ribonucleotide reductase, the key enzyme needed to make deoxyribonucleotides from ribonucleotides. This decreases the concentrations of the dNTPs, inhibiting DNA synthesis, without dramatically altering the pool of rNTPs needed for transcription. It is used primarily against melanoma and myeloproliferative diseases such as chronic myelogenous leukemia; it can be used in combination with radiation therapy that damages DNA, because by lowering pools of dNTPs it can also inhibit DNA repair. The main side effect is myelosuppression, due to the inhibition of DNA synthesis in bone marrow.
Hydroxyurea
such as coumermycin A1 and novobiocin prevent catalytic activity; they target the ATPase subunits encoded by gyrB.
Topoisomerase inhibitors
?? such as Nalidixic acid freeze the covalent DNA–protein links; these complexes are lethal if converted into double-strand breaks, as would happen during replication
Topoisomerase poisons
Defects in mismatch repair cause ???, and they are important in several other cancers. This was initially suggested by the finding that some colon tumors showed frequent mutations in micro-satellites
The primary defect is a mutation in one of the mismatch repair genes.
hereditary nonpolyposis colon cancer (HNPCC),
inhibit RNA elongation by intercalating into DNA template; enzyme can’t read as bases and fall off
Actinomycin D & Acridine
inhibits bacterial RNA synthesis and not eukaryotic RNA by binding to the b subunit of the polymerase; used to treat TB
Rifampicin
blocks Pol II and Pol III (higher concentrations) but NOT Pol I or bacterial RNA polymerase and not eukaryotic polymerases
a-amanitin
Deletion of one base (circled U) causes a frameshift, resulting in read-through of the correct stop codon (UAA) and usage of a new downstream stop codon (UAG). The longer protein, called Wayne a-hemoglobin, has a higher rate of breakdown and contributes to the pathology of ???
alpha-thalassemia
A naturally occurring spontaneous mutation in the TBX3 gene is the cause of ???, which manifests itself in abnormal forelimb and apocrine gland development. Tbx3 encodes a T-box transcription factor that is expressed in the mammary bud and other sites of tissue interactions, such as the limb bud
Ulnar-Mammary Syndrome
The syndrome is inherited as an autosomal dominant trait that is completely penetrant. The disease is due to mutations in the transcription factor TBX5, which is important in the development of both the heart and upper limbs.
Holt-Oram Syndrome
This receptor accumulates in the ER in this disease; ER accumulated proteins are degraded in cytosol; It is mutated in a common hereditary disease that affects the entire body, causing progressive disability and early death; The standard test for diagnosis is a sweat test which evaluates the level of chloride excreted by the body.
Delta F508 CFTR
Enzyme deficiencies usually lead to increased accumulation of specific intermediary metabolites in plasma
and hence in urine. Accumulation of ?? in patients with a deficiency in two enzymes leading to
Decreased levels of nucleotides CTP and TTP. Feedback inhibition would normally decrease ?? production.
orotic acid; orotate; Orotic Aciduria
Elevation of ?? is an indication of damage to muscle. ?? present after a heart attack since it deals with energy production
CPK, creatine kinase
In a myocardial infarction, there is an increase in CPK2. In addition, total ??? increases and ?? becomes greater than ?? between 12 and 24 h. Increase in ?? is diagnostic of a secondary congestive liver involvement.
LDH, lactic dehydrogenase; LDH1; LDH2; LDH5;
?? rises slowly but persists after an myocardial infarction
HBDH, alpha-hydroxybutyric dehydrogenase
The increase of LDH1 and LDH2 within 12–24 h coupled with an increase in CPK2 is diagnostic of ??.
myocardial infarction
??? can be treated with recombinant factor VIIa. It can be present in circulaing blood without causing harmful effects, because it's inactive until it forms a complex with tissue factor.
hemophilia
antithrombin III tightly binds and inactivates thrombin. The clinical administration of ?? promotes the association between antithrombin III and thrombin.
heparin
Plasmin, which exists in circulating blood as plasminogen, is the protease responsible for degrading the fibrin clots. The activator of plasminogen, another protease termed ??? binds with high affinity to the fibrin clot along with plasminogen. The ??-plasminogen-fibrin complex results in proteolytic activation of plasminogen to plasmin, which then begins digesting the fibrin.
tissue plasminogen activator (tPA),
Two analogs of Vitamin K, ?? and ??), have been shown to inhibit formation of the carboxyglutamate residues of prothrombin and Factors VII, IX and X. The lack of carboxyglutamate residues, and hence binding of calcium, was shown to inhibit the participation of these proteins in the blood coagulation process. This is the basis for using coumarin drugs clinically as anti-coagulants.
dicoumarol (I) and warfarin (II),
pH of blood
pH = pKa + log [HCO3-]/[CO2]
usually indicated diabetes; low pH in blood
metabolic acidosis
Diseases caused by ??? include
Ehlers-Danlos Syndromes
Osteogenesis imperfecta (brittle bone disease)
Scurvy
abnormal collagen synthesis
??? results from dietary deficiency of ascorbic acid. Ascorbic acid deficiency causes decreased hydroxyproline and hydroxylysine synthesis because prolyl and lysyl hydroxylases require ascorbic acid.
Collagen containing insufficient hydroxyproline and hydroxylysine loses temperature stability and is less stable than normal collagen at body temperature.
Scurvy
The usual problems are with fragility and hyperextensibility of skin and hypermobility of the joints.The weaknesses result from defects in collagen structure.
EHLERS-DANLOS SYNDROME, TYPE IV
Michaelis-Menten equation
v = Vmax[S] / Km + [S]
??? lowers the oxygen affinity of hemoglobin
2,3 bisphosphoglycerate (BPG)
??? is characterized by Fe3+ rather than Fe2+ in heme, which cannot bind oxygen. Caused by decreased activity of methemoglobin reductase
Methemoglobinemia
caused by a missense mutation that gives a single amino acid substitution of glutamate to valine at position 6 on the b-subunit of hemoglobin.
Sickle Cell Disease
most prevalent mutation found in human cancers; it is a transcription factor that regulates the expression of certain target genes
p53 tumor suppressor gene
Causes Cell cycle arrest since it's a Cyclin-CDK inhibitor; binds PCNA
p21
Inhibits p53, targets p53 for degradation
MDM2
Binds bcl-2 and promotes apoptosis
Bax
?? an autosomal recessive genetic disorder of the secretory processes of all exocrine glands that affects both mucus secreting and sweat glands throughout the body. The protein product of the CFTR gene has been shown to be a cyclic-AMP regulated chloride ion transporter in the plasma membrane. Deltion F508
Cystic Fibrosis
a single amino acid change (Glu to Val) creates a “sticky” hydrophobic contact point at positions 6, on the outside surface of the hemoglobin molecule. This causes hemoglobin S molecules to associate abnormally with one another, forming the long fibrous aggregates characteristic of this disease
Sickle cell anemia
characterized by progressive erosion of articular cartilage; considerable evidence suggests a role for dysregulated apoptosis in the disease process
Osteoarthritis
Disease: a familial form that comes from a mutation in the LDL receptor. It binds cholesterol, but never lets it enter the cells in an organized fashion
Hypercholesterolemia
Stop codons
UAA
UAG
UGA
Start codon
AUG
pH equation/Henderson-Hasselbalch equation
pH = pKa + log [proton acceptor/proton donator]
Dissociation Constant equation
Ka = [H+] [A-]/[HA]
How to find pH of blood?
pH = pK + log [HCO3-]/[CO2]
?? = Km
Vmax/2 = Km
turnover number equation
kcat = Vmax/[E]
Free energy equation
Delta G = Delta H - T*Delta S
Keq = ??
Keq = [products] / [reactants]
pH = ??
pH = -log[H+]
Lineweaver-Burk – x vs y plots??
x-intercept = ?
y-intercept = ?
1/v versus 1/[S]
-1/Km
1/Vmax
coated vesicles mediate vesicle budding from the ER to Golgi (anterograde transport)
COPII
coated vesicles participate in retrograde transport of proteins from the Golgi to the ER
COPI