Key result
Apolipoprotein B gene mutations cause familial hypobetalipoproteinaemia with LDL cholesterol <10 mg/dL in homozygotes, or hypercholesterolaemia via the Arg3500Gln mutation.
Why the study?
How do apolipoprotein B gene mutations affect plasma cholesterol levels and clinical phenotypes?
Population
Individuals with apolipoprotein B gene mutations
Design
Review
Authors
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ApoB genotyping may clarify extreme LDL phenotypes; leaves open prospective studies on penetrance and CV outcomes.
How do apolipoprotein B gene mutations affect plasma cholesterol levels and clinical phenotypes?
Apolipoprotein B gene mutations can lead to either severe hypocholesterolemia (familial hypobetalipoproteinaemia) or hypercholesterolemia (familial defective apolipoprotein B), highlighting the critical role of apoB in lipid metabolism.
Farese et al. (1992) conducted a review in Familial hypobetalipoproteinaemia and familial defective apolipoprotein B. Apolipoprotein B gene mutations vs. Unaffected individuals was evaluated on Plasma cholesterol levels. Apolipoprotein B gene mutations cause familial hypobetalipoproteinaemia with LDL cholesterol <10 mg/dL in homozygotes, or hypercholesterolaemia via the Arg3500Gln mutation.
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