Hypobetalipoproteinemia associated with apo B-48.4, a truncated protein only 14 amino acids longer than apo B-48

G. Ruotolo, T. Zanelli, C. Tettamanti, F. Ragogna, M. Parlavecchia, F. Viganò, A. L. Catapano

Research output: Contribution to journalArticlepeer-review

Abstract

Familial hypobetalipoproteinemia is an autosomal codominant trait that can be caused by mutations in the apo B gene. Here we report a novel apo B gene mutation causing hypobetalipoproteinemia, that is associated with the synthesis of a truncated apo B protein in a young healthy male subject and his mother. The mutation is an A deletion at position 6627 of the apo B cDNA leading to a truncated protein of 2166 amino acids (apo B-48.4). This truncated apo B was detected mainly in VLDL, LDL and in trace amounts in HDL, but not in the lipoprotein deficient plasma fraction. Affected family members present with elevated levels of HDL-cholesterol, mainly due to an increase in HDL2 particles. Postprandial triglycerides and retinyl esters in the d <1.006 g/ml lipoprotein in the proband showed a normal response to an oral fat load compared to a group of eight matched healthy controls. In summary this novel mutation is associated with hypobetalipoproteinemia with a normal fat absorption as expected for a protein with a length similar to that of apo B- 48.

Original languageEnglish
Pages (from-to)125-131
Number of pages7
JournalAtherosclerosis
Volume137
Issue number1
DOIs
Publication statusPublished - Mar 3 1998

Keywords

  • Apo B-48.4
  • HDL subfractions
  • Hypobetalipoproteinemia

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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