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23 Cards in this Set

  • Front
  • Back
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?
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
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
cry of the cat
deletion of short arm of 5
findings: microcephaly, MR, meowing, cardiac anomalies
22q11 syndromes
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