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Dysbetalipoproteinemia in a kindred with hypobetalipoproteinemia due to mutations in the genes for ApoB (ApoB-70.5) and ApoE (ApoE2).

Abstract
We identified the first insertion mutation that specifies an apolipoprotein (apo)B truncation, apoB-70.5, in a father and son with hypobetalipoproteinemia (total and low-density lipoprotein [LDL] cholesterol < 5th percentile, plasma apoB levels approximately one third of normal). The mutation is due to insertion of an adenine (A) into a 7-A repeat between cDNA position 9754 and 9760 of the apoB gene, resulting in a frame shift of 13 new amino acids and a termination codon at amino acid residue 3197. The DNA mutation cosegregated with the apoB truncation and hypobetalipoproteinemia in the kindred. The two apoB-70.5/apoB-100 heterozygotes also are apoE2 homozygotes by genotyping; beta-very-low-density lipoprotein (VLDL) was present, and VLDL cholesterol/triglyceride ratios were increased (0.29) in the plasmas of both. Density gradient ultracentrifugation and gel filtration chromatography profiles showed increased amounts of particles in the VLDL and intermediate-density lipoprotein density and size ranges and relatively smaller peaks of LDL than in controls. Two populations of LDL were present, ApoB-70.5 was primarily associated with LDL particles of higher density and of smaller size than the LDL particles containing apoB-100. ApoB-48-containing particles were present in the VLDL of fasting plasmas of both subjects, and the postprandial levels of chylomicrons and remnants as measured by the vitamin A fat tolerance test were increased. In conclusion, both subjects heterozygous for apoB-70.5 and homozygous for apoE2 showed the classic characteristics of dysbetalipoproteinemia superimposed onto the hypolipoproteinemia state.
AuthorsW A Groenewegen, E S Krul, M R Averna, J Pulai, G Schonfeld
JournalArteriosclerosis and thrombosis : a journal of vascular biology (Arterioscler Thromb) Vol. 14 Issue 11 Pg. 1695-704 (Nov 1994) ISSN: 1049-8834 [Print] United States
PMID7947592 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Apolipoproteins B
  • Apolipoproteins E
  • Lipids
  • Molecular Probes
Topics
  • Adult
  • Aged
  • Apolipoproteins B (genetics)
  • Apolipoproteins E (genetics)
  • Base Sequence
  • Female
  • Genes
  • Humans
  • Hyperlipoproteinemia Type III (genetics)
  • Hypobetalipoproteinemias (genetics)
  • Lipids (blood)
  • Male
  • Middle Aged
  • Molecular Probes (genetics)
  • Molecular Sequence Data
  • Mutation

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