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22 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Name all the important B-vitamins.
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Thiamine (B1)
Riboflavin (B2) Niacin (B3) Pantothenic Acid (B5) Pyridoxine (B6) Cobalamin (B12) |
Other water-soluble vitamins include biotin, vitamin C, and folate
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A deficiency in Vitamin B1 (thiamine) leads to what disorders?
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Beriberi and Wernicke-Korsakoff syndrome
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Seen in alcoholism and malnutrition.
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A deficiency of Vitamin B2 (riboflavin) causes what?
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Angular stomatitis, Cheilosis, and Corneal vascularization
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3 symptoms of Pellagra?
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3 D's: Diarrhea, Dermatitis, Dementia (also beefy glossitis).
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Pellagra caused by deficiency of Vitamin B3 (niacin).
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What metabolic processes take place in the mitochondria?
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Fatty acid oxidation (Beta-oxidation), acetyl-CoA production, Krebs cycle, oxidative phosphorylation.
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What metabolic processes occur in cytoplasm?
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Glycolysis, fatty acid syntehsis, HMP shunt, protein synthesis (RER), steroid synthesis (SER)
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What metabolic processes occur in both mitochondria and cytoplasm?
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Heme synthesis, Urea cycle, Gluconeogenesis (HUGs take TWO)
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Common genetic mutation responsible for SCID?
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Adenosine Deaminase (ADA) deficiency.
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Leads to inhibition of nucleotide synthesis by toxic levels of deoxyadenosine triphosphate. (ADA required for purine breakdown).
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Maple syrup urine disease caused by what?
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Deficiency of alpha-ketoacid dehydrogenase. Leads to blocked degratdation of branched amino acids (Ile, Val, Leu -- "I Love Vermont maple syrup") --> inc. alpha-ketoacids in blood (esp Leu)
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Causes severe CNS defects, mental retardation, and death.
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What disease is characterized by abnormal blood vessel growth leading to angiomas and hemangioblastomas in the retina, brain, and spinal cord as well as other regions of the body?
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von Hippel-Lindau disease
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List three major molecular bio techniques and what they detect?
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SNoW DRoP:
Southern blot: DNA Northern blot: RNA Western blot: Protein |
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What autosomal-dominant disorder results in abnormal collagen type I.
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Osteogenesis imperfecta
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Sx: multiple fractures, blue sclerae, hearing loss, dental imperfections
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Alport's syndrome due to what type of mutation?
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Collagen IV mutation.
(Characterized by nephritis, sensorineural deafness, and ocular disorders) |
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Clonal proliferation of myelogenous cells?
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Ewing's sarcoma
(bone tumor that affects pts b/w 5 - 25 years old) |
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Symptoms of scurvy (vit C deficiency)?
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easy bruising and wound healing; fractures not commonly seen.
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Depression, severe cognitive decline, and involuntary writhing movements?
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Huntington's Disease. Autosomal dominant disorder, chromosme 4, excess CAG trinucleotide repeats --> atrophy of caudate nucleus.
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Expansion of CGG trinucleotide repeats on X chromosome = which disorder?
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Fragile X syndrome (most common cause of inherited mental retardation second to Down syndrome).
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CTG trinucleotide repeat on chromosome 19?
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Myotonic dystrophy (AD disorder --> presents in late childhood w/ gait abnormalities, weakness of UE, and atrophy of facial muscles)
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What are the four trinucleotide repeat expansion diseases, what is the repeat, and which chromosome are they located on?
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"Try hunting for MY FRIED eggs (X)."
Huntington's: CAG, 4 Myotonic Dystrophy: CTG, 19 Friedrich's Ataxia: GAA, 9 Fragile X: CGG, X |
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Electron transport inhibitors?
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Rotenone, CN-, antimycin A, CO
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ATPase inhibitor?
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Oligomycin
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Uncoupling agent?
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2,4-DNP, aspirin, thermogenin (in brown fat)
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