based on second half of first aid biochem chapter
Terms
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- major apolipoproteins
-
A1 -Activates LCAT
B100 - Binds to LDL receptor
C-II - Cofactor for lipoprotein lipase
E - mediates Extra (remnant) uptake - lipoprotein lipase function
- degradation of TG circulating in chylomicrons and VLDLs
- chylomicrons - originate where?
-
are secreted by intestinal epithelial cells
B-48 mediates secretion - VLDL originates where
- secreted by liver. secretion mediated by B-100
-
HDL originates where?
does what? -
secreted from both liver and intestine
mediates reverse transport of cholesterol, from periphery to liver
HDL is Healthy
LDL is Lousy - underproduction of heme causes what anemia?
- microcytic hypochromic anemia
- accumulation of heme intermediates causes?
- porphyria
- types of porphyrias
-
lead poisoning
acute intermittent
porphyria cutanea tarda - symptoms of porphyria
- 5 Ps: psychologic, painful abdomen, pink urine, polyneuropathy, precipitated by drugs
- what factor favor taut over relaxed form of hemoglobin
-
high CO2, H+, Cl, 2,3-BPG and temperature
relaxed hemoglobin binds O2 more readily - pleiotropy definition
- 1 gene has > 1 efect on an individual's phenotype
-
mitochondrial inheritance
transmitted by who?
disease examples? -
only through mother
leber's hereditary optic neuropathy, mitochondrial myopathies -
neurofibromatosis
inheritance pattern?
symptoms of 1 and 2? -
autosomal dominant
type 1 - cafe au lait spots, neural tumors, lisch nodules (pigmented iris)
type 2 - bilateral acoustic neuromas - X-linked recessive disorders
- duchenne's muscular dystrophy, lesch-nyhan syndrome, hemophilia A and B, G6PD deficiency, fragile X
- duchennes muscular dystrophy
- x-linked recessive frame shift mutation --> deletion of dystrophin gene --> accelerated muscle breakdown. weakness begins in pelvic girdle muscles
- becker's muscular dystrophy
- less severe than duchenne's, mutated dystrophin gene (not deleted)
- fragile X
-
triplet repeat disorder that may show anticipation
2nd most common cause of MR
fragile X = eXtra-large testes, jaw, and ears - down syndrome
-
trisomy - 21
findings: congenital heart disease, alzheimers disease, increased risk of ALL - edwards syndrome
-
trisomy 18
findings: MR, rocker bottom feet, low-set ears, micrognathia (small jaw), heart disease, clenched hands, prominent occiput. death before 1st bday - pattau's syndrome
-
trisomy 13
findings: MR, polydactyly microphthalmia, microcephaly, cleft lip, congenital heart disease
death before 1st bday - cri-cu-chat
-
cry of the cat
deletion of short arm of 5
findings: microcephaly, MR, meowing, cardiac anomalies - 22q11 syndromes
-
CATCH-22
cleft palate, abnormal facies, thyroid aplasia, cardiac defects, hypocalcemia (due to parathyroid aplasia) - number one cause of congenital malformation in the US
- fetal alcohol syndrome