Genetic determinants of apolipoprotein B-100 kinetics.

Abstract:

PURPOSE OF REVIEW:We review stable isotope tracer studies of apolipoprotein B-100 (apoB) kinetics concerning genetic polymorphisms and mutations that affect human lipoprotein metabolism. RECENT FINDINGS:In obese men, the allelic combination of the apoB signal peptide, SP24, and cholesteryl ester transfer protein, CETP B1B1, is independently associated with lower VLDL apoB secretion. Microsomal triglyceride transfer protein -493G/T carriers have reduced IDL apoB and LDL apoB production as compared with controls. Mutations in cholesterol transporters (ATP-binding cassette transporter G8 and Niemann-Pick C1 Like 1) are associated with reduced VLDL apoB secretion and increased LDL apoB production and catabolism. The ATP-binding cassette transporter G8 400K variant is a significant, independent predictor of VLDL apoB secretion. Mutations in lipases (lipoprotein lipase and hepatic lipase) and transfer proteins (lecithin-cholesterol acyltransferase and cholesteryl ester transfer protein) alter their functional activity, which impact on VLDL and LDL kinetics. SUMMARY:Mutations in genes that regulate intrahepatic apoB assembly and lipid substrate availability to the liver impact on VLDL apoB secretion. Lipoprotein tracer studies can provide functional insight into the potential impact of genetic polymorphisms in regulating apoB metabolism in humans.

journal_name

Curr Opin Lipidol

authors

Ng TW,Ooi EM,Watts GF,Chan DC,Barrett PH

doi

10.1097/MOL.0b013e3283378e5a

subject

Has Abstract

pub_date

2010-04-01 00:00:00

pages

141-7

issue

2

eissn

0957-9672

issn

1473-6535

journal_volume

21

pub_type

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