Editing Final Review Sheet
From Iusmgenetics
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|Ca++ binding fails in EGF-like domain mutations; TGF-beta binding protein mutations fail to sequester TGF-beta; Up-regulation of TGF-beta causes malformed matrix. | |Ca++ binding fails in EGF-like domain mutations; TGF-beta binding protein mutations fail to sequester TGF-beta; Up-regulation of TGF-beta causes malformed matrix. | ||
|''Multidisciplinary management''; Ocular: lens correction, screening, sc (cataracts, ectopic lens); CV: echochardiography to monitor valves / aorta, beta-blockers; Counseling: isometric exercise, impact sports, pregnancy. | |''Multidisciplinary management''; Ocular: lens correction, screening, sc (cataracts, ectopic lens); CV: echochardiography to monitor valves / aorta, beta-blockers; Counseling: isometric exercise, impact sports, pregnancy. | ||
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+ | !Familial Hypercholesterolemia | ||
+ | |Early-onset atherosclerosis, elevated serum cholesterol, elevated LDL, Xanthomas (tendons, skin, eyelids), '''childhood MIs in homozygotes''' | ||
+ | |'''AD''', AR; '''semi-dominant''' | ||
+ | |LDL receptor (binds APOB100 on LDL for metabolism), APOB100 (surrounds LDL, binds receptor), ARH adapter protein (binds LDL receptos with APOB100 / LDL into clathrin pits), PCSK9 protease (degrades LDL receptor); '''locus heterogeneity'''; LDLR mutations are classified I-V from failure to synthesize to failure to remove from surface | ||
+ | |Loss of function: LDL receptor, APOB100, ARH adapter protein; Gain of function: PCSK9 protease. | ||
+ | |'''Deplete bile''': bile acid binding resins allow bile (with cholesterol in it) to be passed; '''Inhibit HMG-CoA reductase''': '''statins''' inhibit HMG-CoA reductase so it doesn't make cholesterol out of acetyl CoA (hepatocytes). | ||
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!Homocysteinuria | !Homocysteinuria | ||
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|Homocysteine is the toxic substance that causes disease; homocysteine may impair disulfide bridges in FBN1 and thus cause ''Marfan like S&S''. | |Homocysteine is the toxic substance that causes disease; homocysteine may impair disulfide bridges in FBN1 and thus cause ''Marfan like S&S''. | ||
|B6 (pyridoxine) supplemenatation (a cofactor for CBS); '''low methionine diet''' (meth is the aa most often converted to homocysteine); '''betaine / folate / b12 supplements''' to augment the homocysteine -> methionine converstion (to reduce homocysteine levels) | |B6 (pyridoxine) supplemenatation (a cofactor for CBS); '''low methionine diet''' (meth is the aa most often converted to homocysteine); '''betaine / folate / b12 supplements''' to augment the homocysteine -> methionine converstion (to reduce homocysteine levels) | ||
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!Cystic Fibrosis | !Cystic Fibrosis |