Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote
نویسندگان
چکیده
منابع مشابه
Lipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia.
CONTEXT Familial hypobetalipoproteinemia (FHBL) is a codominant disorder of lipoprotein metabolism characterized by decreased plasma concentrations of low-density lipoprotein (LDL)-cholesterol and apolipoprotein B (apoB). OBJECTIVE The objective was to examine the effect of heterozygous APOB L343V FHBL on postprandial triglyceride-rich lipoprotein (TRL) and fasting lipoprotein metabolism. M...
متن کاملApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia.
Two novel apoB gene mutations were identified in a patient (CM) with phenotypic homozygous hypobetalipoproteinemia. Haplotype analysis of the apoB alleles from this patient and his family members revealed him to be a genetic compound for the disease. In contrast to previous studies of other hypobetalipoproteinemic patients, no clues existed as to where in the apoB gene the molecular defects res...
متن کاملAssessment of tocopherol metabolism and oxidative stress in familial hypobetalipoproteinemia.
BACKGROUND Vitamin E supplementation has been recommended for persons with familial hypobetalipoproteinemia (FHBL), a rare disorder of lipoprotein metabolism that leads to low serum alpha-tocopherol and decreased LDL-cholesterol and apolipoprotein (apo) B. We examined the effect of truncated apoB variants on vitamin E metabolism and oxidative stress in persons with FHBL. METHODS We studied 9 ...
متن کاملFamilial hypobetalipoproteinemia: a review.
We review the genetics and pathophysiology of familial hypobetalipoproteinemia (FHBL), a mildly symptomatic genetically heterogeneous autosomal trait. The minority of human FHBL is caused by truncation-specifying mutations of the APOB gene on chromosome 2. In seven families, linkage to chromosome 2 is absent, linkage is instead to chromosome 3 (3p21). In others, linkage is absent to both APOB a...
متن کاملDecreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia.
Familial hypobetalipoproteinemia (FHBL) is an autosomal codominant disorder characterized by low levels of apolipoprotein (apo) B and low-density lipoprotein (LDL) cholesterol. Decreased production rates of apoB have been demonstrated in vivo in FHBL heterozygotes. In the present study, we wished to investigate whether the transport of triglycerides was similarly affected in these subjects. The...
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ژورنال
عنوان ژورنال: Clinical Biochemistry
سال: 2016
ISSN: 0009-9120
DOI: 10.1016/j.clinbiochem.2016.02.008