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The hypobetalipoproteinemias

¹Washington University School of Medicine, Department of Medicine, St. Louis, Missouri 63110, USA.

Annual Review of Nutrition

|January 1, 1995

Summary

This summary is machine-generated.

Individuals with hypobetalipoproteinemia have low LDL cholesterol, reducing cardiovascular risk but increasing risks for other diseases. Genetic mutations in apolipoprotein B-100 cause this condition, affecting cholesterol levels and secretion rates.

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Area of Science:

Genetics
Biochemistry
Cardiology

Background:

Hypobetalipoproteinemia is characterized by low low-density lipoprotein (LDL) cholesterol levels, typically below the fifth percentile (approx. 90 mg/dl).
Individuals with hypobetalipoproteinemia exhibit reduced risk of atherosclerotic cardiovascular disease but increased risk for cancers and gastrointestinal diseases.
The precise causes of most hypobetalipoproteinemia cases remain unknown, though some forms are inherited as autosomal dominant traits.

Purpose of the Study:

To investigate the genetic and physiological underpinnings of hypobetalipoproteinemia.
To identify molecular variants responsible for hypobetalipoproteinemia in affected kindreds.
To understand the impact of apolipoprotein B-100 gene mutations on LDL cholesterol levels and lipoprotein secretion.

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Main Methods:

Analysis of well-studied kindreds with autosomal dominant hypobetalipoproteinemia.
Genetic linkage studies to identify mutations associated with the low-cholesterol phenotype.
Characterization of apolipoprotein B-100 (apoB-100) gene mutations, including frameshift-producing base additions or deletions leading to truncated apoB variants.

Main Results:

A subset of hypobetalipoproteinemia kindreds show genetic linkage to truncation-producing mutations in the apoB-100 gene.
These mutations result in premature termination codons, creating truncated apoB variants (apoB-2 to apoB-89).
Heterozygotes exhibit slowed secretion rates of truncated apoB and reduced secretion rates of normal apoB-100, leading to hypobetalipoproteinemia.

Conclusions:

Truncation mutations in the apoB-100 gene are a significant cause of autosomal dominant hypobetalipoproteinemia.
The altered secretion rates of apoB-100 and its truncated variants directly account for the low LDL cholesterol levels observed.
Further research is needed to determine the impact of dietary factors on lipoprotein profiles in heterozygotes and to elucidate the causes of other hypobetalipoproteinemia syndromes.