A truncated species of apolipoprotein B, B-83, associated with hypobetalipoproteinemia

R. V. Farese, A. Garg, V. R. Pierotti, G. L. Vega, S. G. Young

Research output: Contribution to journalArticle

26 Scopus citations

Abstract

Familial hypobetalipoproteinemia, a syndrome associated with low plasma cholesterol levels, can be caused by apoB gene mutations. We identified a healthy 42-year-old man whose total plasma cholesterol level was 80 mg/dl. His plasma very low density lipoprotein (VLDL) contained a unique truncated apoB species, apoB-83, in addition to the normal B apolipoproteins, apoB-100 and apoB-48. Virtually no apoB-83 was detectable in his low density lipoprotein (LDL). From the subject's kindred, we identified nine other hypocholesterolemic subjects whose VLDL contained apoB-83. A tendency for cholelithiasis was noted in the apoB-83 heterozygotes, particularly in the older individuals. From the apparent size of apoB-83 on SDS-polyacrylamide gels and its reactivity with apoB-specific monoclonal antibodies, we estimated that it would contain approximately 3700-3800 amino acids. DNA sequencing of apoB genomic clones from two affected individuals revealed that apoB-83 was caused by a C→A transversion in exon 26 of the apoB gene (apoB cDNA nucleotide 11458). This mutation converts Ser-3750 (TCA) into a premature stop codon (TAA) and creates a unique MseI restriction endonuclease site. Thus, a single nucleotide transversion in the apoB gene results in a unique truncated apoB species, apoB-83, and the clinical syndrome of familial hypobetalipoproteinemia.

Original languageEnglish (US)
Pages (from-to)569-577
Number of pages9
JournalJournal of lipid research
Volume33
Issue number4
StatePublished - 1992

Keywords

  • cholelithiasis
  • cholesterol
  • hypolipidemia
  • monoclonal antibody
  • polymerase chain reaction

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology
  • Cell Biology

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