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33 Cards in this Set
- Front
- Back
ehler's danlos
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type 3 collagen defect
hypermobile joints and bleeding tendency |
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elastin rich in
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proline and glycine, nonglycosylated forms
marfan's emphesems anti tripsin deficiency breaks down this via elastase cross linking b/t lysines off diff elastin chains give plasticity and recoil |
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tRNA 3' end has
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CAA, where amino acid binds
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alport's syndrome
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type 4 collagen
BM of kidney, ears, eyes nephritis and deafness, +/- ocular disturbances x linked |
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southern blot
northern blot western blot |
DNA, RNA, protein
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detect single nucleotide polymorphism
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microarray p 81 FA
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if can't see anomaly on karotype use....
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FISH!
82 FA |
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pleiotropy
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1 gene has more than 1 effect on same person (like PKU has all these unrelated symptoms from hair/skin changes to mental retardation)
compare to variable expression in DIFFERENT people |
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heteroplasmy
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presence of both normal and mutant mitochondrial DNA results in variable expression of mitochondrial diseaes
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Angelman's versus Prader Willi
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Prader willi: deletion of normally active paternal gene. hypogonadism, mental retardation, hungry, fat, hypotonia
Angelman's: maternal allele deletion. happy puppet. mental retardation, ataxia, inappropriate laughter chromosome 15. imprinting |
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nosebleeds (epistaxis), arteriovenous malformations, skin discoloration
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hereditary hemorrhagic telangiectasia (osler-weber-rendu syndrome)
AD inherited disroder of blood vessels. also see telangiectasia |
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neurofibromatosis type 1 and type 2
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type 1:
lisch nodules (pigmented iris hamartomas) cafe-au-lait spots neural tumors skeletal things (scoliosis optic gliomas pheochromocytoma chromosome 17 (von Recklinghausen's disease) type 2: bilat acoustic neuroma juvenile cataracts gene on chromosome 22 both AD |
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Tuberous sclerosis
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ash leaf spots
also: seizures mental retardation renal cysts/angiomyolipoma cardiac rhabdomyoma facial lesions (adenoma sebaceum) cortical and retinal hamartomas AD but incomplete penetrance so variable presentation |
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von Hippel Lindau
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bilateral renal cell carciomas
VHL tuomor suppressor gene chrome 3 constituitive expression of transcription factor HIF so growing. also: hemangioblastomas of retina/cerebellum/medulla (note NOT CORTEX) AD |
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cystic fibrosis infertility in men?
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b/c of bilat absence of vas deferns
AR CFTR gene on chrome 7, Cl- channels. abnormal protein folding so degraded b/f reach cell surface actively secrete Cl- in lungs and GI actively reabsorb Cl in skin from sweat |
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muscular dystrophies, becker vs duchenne
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duchenne earlier onset. D for more Detrimental!!
dystrophin helps anchor muscle fubers esp in skeletal and cardiac muscle |
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large testes. long face. autism
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Fragile X syndrome. X linked. FMR1 gene methylation and expression affected. also associated with chromosomal breaks
CGG repeats X for Xtra large testes, jaw, ears macro-orchidism long face large jaw large everted ears autism mitral valve prolapse |
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Fredreich's ataxia etiology
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GAA repeats
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patau vs edwards
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patau: ch 13
cleft lip/Palate holoProsencephaly Polydactyly also: rocker bottom feet micropthalmia (small eyes) microcephaly (small head) mental retardation ~~~~~~~~~~~~~~~~~~~~~ Edward's: 18 micrognathia (small jaw) clenched hands low set ears mental retardation prominent occiput NOTE: both have mental retardation and death within 1 year usually |
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dry skin and decreased immunity
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vit A def
only few months store even tho fat soluble also night blindness |
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Vt b1 cofactor for
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thiamine.
pyruvate dehydrogenase (glycolysis alpha-ketoglutarate dehdrogenase (TCA) transketolase (HMP shunt) branched chain AA dehydrogenase p 91 |
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inflammed lips and scaling around corners of mouth
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Vit b2 riboflavin def
cheilosis (inflamm of lips), scaling/fissures around corners of mouth corneal vascularization redox things as FADH2. succinate dehydrogenase cofactor (TCA, succinate to fumarate) |
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hot feet and hair loss
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vit b5 (pantothenate)
def: dermatitis enteritis alopecia ADRENAL INSUFF |
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vit def caused by:
1. Isoniazid 2. Oral contraceptive 3. diphyllobathrium latum 4. phenytoin 5. sulfonamides 6. MTX |
1 and 2: vit B6
3: vit b12 4-6: folic acid |
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hemolytic anemia and vitamin etiology?
Biotin Functions? |
vit E. protects from free radical damage
cofactor: pyruvate carboxylase (pyruvate to oxaloacetate) (gluconeogenesis) acetyl CoA carboxylase (Acetyl coA to malonyl coA) (FA synth) propionyl co A carboxylase (propionyl coA to methylmalonyl coA) (odd chain FA use, to TA as succinyl coA) carboxylase means add 1 C so all turn 3C to 4C def via excessive raw eggs, avidin in egg whites bind it |
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garlic breath, rice water stools, vomitting
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arsenic poisoning. inhibit lipoic acid needed for pyruvate dehydrogenase complex in glycolysis (pyruvate to acetyl co A)
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purely ketogenic aas?
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lysine, leucine. eat in pyruvate dehydrogenase deficiency (needed for pyruvate to acetyl coA in glycolysis)
--see back up of pyruvate and alanine (pyruvate converts to alanine) |
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pyruvate kinase deficiency
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converts PEP to pyruvate (remember 'kinases' convert to product, like PEP carboxykinase which converts 1,3 BPG to PEP).
HEMOLYTIC ANEMIA results b/c can't maintain Na/K pump so rbc swelling/lysis remember: RBC metabolize glucose anaerobically so only depend on glycolysis. |
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Kreb's cycle path
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Citrate Is Kreb's Starting Substrate For Making Oxaloacetate
Citrate, iso citrate, alpha-ketoglutarate, Succinyl co A, succinate, Fumarate, Malate, oxaloacetate p 100 |
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alpha ketoglutarate dehydrogenase and pyruvate dehydrogenase both use
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lipoic acid, B1, B2, B3, B5.
alpha ketoglutarate: Kreb's cycle. (citrate is kreb's starting substrate for making oxaloacetate) (converts alpha-ketoglut to succnyl coA) pyruvate dehydrogenase: glycolysis. converts pyruvate to acetyl coA. w/o see back up of alanine and pyruate (pyruvate can convert to alanine, alanine feedback inhibs glycolysis via inhib phosophofructokinase1, the rate limiting step) |
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ETC. oxidative phosphorylation poisons?
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1. Rotenone, CN-, antimycin A, CO: ETC inhib directly, so decreased proton gradient and block ATP synthesis
2. Oligomycin (natural macrolide, not used i think): ATPase inhib. see increased proton gradient, but not further ATP production b/c one that's made can't be broken down, so electron transport stops 3. 2,4-DNP, aspirin, brown fat: uncoupling agents. increase permeability of membrane, so decreased proton gradient and increased O2 consumption. ATP synth stops but electron transport continues so energy dissipates as heat |
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Gluconeogenesis pathway enzymes
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pathway produces fresh glucose
pyruvate carboxylase PEP carboxykinase Fructose 1,6-bisphosphatase glucose 6 posphatase in liver. |
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peripheral neuropathy, cardiovascular or renal problem, angiokeratoma and lysosomal storage problem
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fabrey's disease
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