A TRUNCATED SPECIES OF APOLIPOPROTEIN-B (B-38.7) IN A PATIENT WITH HOMOZYGOUS HYPOBETALIPOPROTEINEMIA ASSOCIATED WITH DIABETES-MELLITUS

Citation
K. Ohashi et al., A TRUNCATED SPECIES OF APOLIPOPROTEIN-B (B-38.7) IN A PATIENT WITH HOMOZYGOUS HYPOBETALIPOPROTEINEMIA ASSOCIATED WITH DIABETES-MELLITUS, Arteriosclerosis, thrombosis, and vascular biology, 18(8), 1998, pp. 1330-1334
Citations number
35
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Peripheal Vascular Diseas",Hematology
ISSN journal
1079-5642
Volume
18
Issue
8
Year of publication
1998
Pages
1330 - 1334
Database
ISI
SICI code
1079-5642(1998)18:8<1330:ATSOA(>2.0.ZU;2-F
Abstract
Familial hypobetalipoproteinemia is caused by mutations in the apolipo protein (apo) B gene. We identified a 57-year-old woman whose plasma t otal cholesterol and apoB levels were 2.17 mmol/L and 0.03 g/L, respec tively. Separation of plasma lipoproteins by sodium dodecyl sulfate-po lyacrylamide gel electrophoresis revealed the absence of apoB-100 and the presence of a faster-migrating form of apoB with an apparent M-r o f 195 kDa. Direct sequencing of a polymerase chain reaction-amplified fragment of the patient's apoB gene DNA revealed a single C-->T transi tion at nucleotide 5472 that converts glutamine 1755 (CAA) to a stop c odon (TAA). We predict this novel nonsense mutation of the apoB gene t o produce a truncated protein that contains 1754 amino-terminal amino acid residues of apoB-100. We designated this mutant form of apoB apoB -38.7 by following the centile nomenclature of the apoB species. The s ame mutation was found in both of her children. The proband revealed c linical findings of retinitis pigmentosa, acanthocytosis, and loss of deep tendon reflexes that are characteristic of severe hypobetalipopro teinemia. In addition, the proband had type II diabetes mellitus with nephropathy, anemia, cholelithiasis, hepatic hemangioma, bronchiectasi s, and extensive calcification of major arteries including, the celiac , splenic, and renal. In summary, we have found a novel truncated apoB , apoB-38.7, in a patient with an unusual presentation of hypobetalipo proteinemia that includes diabetes mellitus and extensive arterial cal cification.