Notes in L28 - Metabolic Diseases of Lipid Metabolism

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Published	11/02/2024	In the well fed state, triglycerides will be preferentially delivered to {{c1::adipose}} over {{c1::skeletal mm.}}
Published	11/02/2024	IDL can be taken up by the liver via {{c1::apolipoprotein E (via the remant receptor) or B100 (via the LDL receptor)}}
Published	11/02/2024	Arcus corneae are composed of {{c1::cholesterol}} deposits
Published	11/02/2024	Non-alcoholic fatty liver disease (NAFLD) is typically {{c1::asymptomatic}}, however, in certain cases it can lead to {{c1::inflammation}}
Published	11/02/2024	Familial hypercholesterolemia.Inheritance pattern: {{c1::autosomal dominant with a dose dependence}}Affected protein: {{c1::ApoB100 or LDLR}}Pathophys…
Published	11/02/2024	In {{c2::familial hypercholesterolemia}}, a heterozygous individual is likely to have serum cholesterol levels in the range of {{c1::300-600}} whereas…
Published	11/02/2024	Familial hypertriglyceridemiaInheritance pattern: {{c1::autsomal dominant}}Affected biomolecules: {{c1::increased production of VLDLs}}Clinical featur…
Published	11/02/2024	Familial combined hypercholesterolemia.Inheritance pattern: {{c1::autsomal dominant with a dose-dependent effect}}Pathophysiology: {{c1::disrupted Apo…
Published	11/02/2024	{{c2::Familial dysbetalipoproteinemia}} is characterized by {{c1::defective ApoE allele}} leading to an increase in {{c1::IDL and chylomicron remnants…
Published	11/02/2024	{{c2::Tangier's disease}} refers to a defect in {{c1::ABCA1}} which causes a decrease in {{c2::HDL/ApoA}} and has a hallmark {{c2::accumulation of pla…
Published	11/02/2024	Hyperlipidemias are {{c1::primary}} if genetic, {{c1::secondary}} if acquired.
Published	11/02/2024	Diabetes can lead to secondary hyperlipidemia via insulin-{{c1::resistance mediated}} increases in {{c1::lipolysis}} and insulin-{{c1::independent}} i…
Published	11/02/2024	What effect does diabetes have on plasma triglyceride and free fatty acid levels? Explain.{{c1::Increased triglyceride and VLDL synthesisDecreased adi…
Published	11/02/2024	{{c2::Hypertriglyceridemia}} can lower serum HDL via {{c1::hyperstimulation of CETP, generating unstable HDLs that lose apoA1 and are degraded in the …
Published	11/02/2024	The primary dietary determinant of serum cholesterol is particularly the consumption of {{c1::saturated and trans-fats}}.
Published	11/02/2024	Why does DMII cause an increase in VLDL?{{c1::Glucose uptake in the liver is inuslin-independent. Therefore, high intracellular glucose in hepatocytes…
Published	11/02/2024	Familial hyperchylomicronemia.Inheritance pattern: {{c1::autosomal recessive}}Pathophysiology: {{c1::defective LPL or Apo-CII, elevated chylomicrons a…
Published	11/02/2024	Abetalipoproteinemia.Inheritance pattern: {{c1::autosomal recessive}}Affected protein: {{c1::MTP}}Pathophysiology: {{c1::impaired synthesis of chylomi…
Published	11/02/2024	what are the 4 signs of primary hyperlipidemias?1. {{c1::physical manifestation (xanthomas, arcus corneae)}}2. {{c1::atherosclerotic heart disease bef…
Published	11/02/2024	xanthomas are {{c1::cholesterol rich lipid}} deposits that often form {{c1::subcutaneously}} as a result of disorders to lipid metabolism
Published	11/02/2024	Nonalcoholic steatohepatitis (NASH)precursor condition: {{c1::nonalcoholic fatty liver disease (NAFLD)}}elevated enzymes: {{c1::AST, ALT}}symptoms: {{…
Published	11/02/2024	what happens when there's a disruption of the ApoB100/LDLR interaction?{{c1::LDL cannot be cleared from the blood and is accumulating, causing severe …
Published	11/02/2024	in familial hypercholesterolemia, 95% of mutations involve {{c1::LDLR}} and the remaining 5% are due to mutations in {{c1::Apo-B100}}
Published	11/02/2024	when there's a disruption of the ApoCII/LPL interaction, {{c1::chylomicrons}} aren't hydrolzed to release {{c1::fatty acids}}. this results in elevate…
Published	11/02/2024	disrupiton of Apo-CII and LPL interaction increases the risk for {{c1::pancreatitis}} due to elevated triacylglycerol levels
Published	11/02/2024	Chylomicron retention diseaseAffected enzyme: {{c1::enzyme responsible for releasing chylomicrons from intestinal cells}}Pathophysiology: {{c1::low ch…
Published	11/02/2024	SitosterolemiaMutated gene(s): {{c1::ABCG5 or ABCG8}}Pathophysiology: {{c1::abnormal accumulation of plant sterols that aren't transported to the inte…
Published	11/02/2024	{{c1::polygenic hypercholesterolemia}} (aka {{c1::nonfamilial hypercholesterolemia}}) is the most common cause of hypercholesterolemia in the US and i…
Published	11/02/2024	metabolic syndrome increases the risk for {{c1::CHD}} at {{c1::any given}} LDL-cholesterol level and involves the presence of at least {{c1::3}} of th…
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