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Titolo:
IDENTIFICATION AND CHARACTERIZATION OF A NOVEL APOLIPOPROTEIN-E VARIANT, APOLIPOPROTEIN-E3' (ARG(136)-]HIS) - ASSOCIATION WITH MILD DYSLIPIDEMIA AND DOUBLE PRE-BETA VERY-LOW-DENSITY LIPOPROTEINS
Autore:
MINNICH A; WEISGRABER KH; NEWHOUSE Y; DONG LM; FORTIN LJ; TREMBLAY M; DAVIGNON J;
Indirizzi:
CLIN RES INST MONTREAL,110 PINE AVE W MONTREAL PQ H2W 1R7 CANADA UNIV CALIF SAN FRANCISCO,GLADSTONE INST CARDIOVASC DIS,CARDIOVASC RESINST SAN FRANCISCO CA 94110
Titolo Testata:
Journal of lipid research
fascicolo: 1, volume: 36, anno: 1995,
pagine: 57 - 66
SICI:
0022-2275(1995)36:1<57:IACOAN>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
CYSTEINE-ARGININE INTERCHANGE; HEPARAN-SULFATE PROTEOGLYCANS; RECEPTOR-BINDING ACTIVITY; HUMAN-PLASMA-LIPOPROTEINS; HUMAN-E APOPROTEIN; III HYPERLIPOPROTEINEMIA; FAMILIAL DYSBETALIPOPROTEINEMIA; LIPOLYTIC CONVERSION; E ISOFORMS; SITE;
Keywords:
CHYLOMICRON REMNANTS; HEPARIN BINDING; LDL RECEPTOR-BINDING ACTIVITY; PLASMA TRIGLYCERIDE; TYPE III HYPERLIPOPROTEINEMIA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
47
Recensione:
Indirizzi per estratti:
Citazione:
A. Minnich et al., "IDENTIFICATION AND CHARACTERIZATION OF A NOVEL APOLIPOPROTEIN-E VARIANT, APOLIPOPROTEIN-E3' (ARG(136)-]HIS) - ASSOCIATION WITH MILD DYSLIPIDEMIA AND DOUBLE PRE-BETA VERY-LOW-DENSITY LIPOPROTEINS", Journal of lipid research, 36(1), 1995, pp. 57-66

Abstract

Apolipoprotein (apo) E mediates the removal of chylomicron and VLDL remnants from plasma. In a proband with mild hyperlipidemia and a family history of premature coronary artery disease, we have identified a new mutant of apoE with an isoelectric point close to but distinct fromthat of apoE3. Sequencing of the apoE gene from this subject (JB) revealed that the subject was heterozygous for a G to A substitution in codon 136, resulting in the substitution of histidine for arginine; therefore, we have designated this isoform apoE3' (Arg(136)-->His). Examination of the proband's kindred revealed that the nine carriers (all heterozygotes) of the variant isoform displayed a twofold elevation in the concentration of very low density lipoprotein (VLDL) cholesterol (40 +/- 8 mg/dl) and triglyceride (109 +/- 19) compared to the nine noncarriers (19 +/- 3 and 55 +/- 13, respectively). In all carriers, the VLDL displayed an abnormal double pre-beta pattern upon electrophoresis. The low density lipoprotein receptor-binding activity of purified apoE3' (Arg(136)->His) when complexed with DMPC was slightly defective (80% of the activity of normal apoE). The mutant apoE also displayed areduced affinity for heparin compared to apoE3. As both of these biochemical parameters are known to be important in VLDL clearance, the defects associated with this variant are likely responsible for the increase in VLDL observed in carriers. None of the carriers displayed clinical features of type III hyperlipoproteinemia, suggesting that the relatively mild dyslipoproteinemic phenotype associated with this variant might be associated with recessive expression of this disorder. However, the abnormal VLDL phenotype appears to be dominantly expressed.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 14:53:18