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Titolo:
EVIDENCE FOR A CHOLESTEROL-LOWERING GENE IN A FRENCH-CANADIAN KINDREDWITH FAMILIAL HYPERCHOLESTEROLEMIA
Autore:
SASS C; GIROUX LM; MA YH; ROY M; LAVIGNE J; LUSSIERCACAN S; DAVIGNON J; MINNICH A;
Indirizzi:
CLIN RES INST MONTREAL,HYPERLIPIDEMIA & ATHEROSCLEROSIS RES GRP,110 PINE AVE W MONTREAL PQ H2W 1R7 CANADA CLIN RES INST MONTREAL,HYPERLIPIDEMIA & ATHEROSCLEROSIS RES GRP MONTREAL PQ H2W 1R7 CANADA UNIV BRITISH COLUMBIA HOSP,DEPT MED GENET VANCOUVER BC CANADA
Titolo Testata:
Human genetics
fascicolo: 1, volume: 96, anno: 1995,
pagine: 21 - 26
SICI:
0340-6717(1995)96:1<21:EFACGI>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
LOW-DENSITY-LIPOPROTEIN; APOLIPOPROTEIN-E POLYMORPHISM; LDL RECEPTOR GENE; LEUCINE ZIPPER PROTEIN; MUTATIONS; BINDING; TRANSCRIPTION; DELETIONS; CELLS; RNA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
40
Recensione:
Indirizzi per estratti:
Citazione:
C. Sass et al., "EVIDENCE FOR A CHOLESTEROL-LOWERING GENE IN A FRENCH-CANADIAN KINDREDWITH FAMILIAL HYPERCHOLESTEROLEMIA", Human genetics, 96(1), 1995, pp. 21-26

Abstract

We describe a four-generation kindred with familial hypercholesterolemia (FH) in which two of the eight heterozygotes for a 5-kb deletion (exons 2 and 3) in the low density lipoprotein (LDL) receptor gene werefound to have normal LDL-cholesterol levels. In our search for a generesponsible for the cholesterol-lowering effect in this family, we have studied variation in the genes encoding the LDL receptor, apolipoprotein (ape) B, 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase, apoAI-CIII-AIV, and lipoprotein lipase. The analysis showed that it was unlikely that variation in any of these genes was responsible for the cholesterol-lowering effect. Expression of the LDL receptor, as assessed in vitro with measurements of activity and mRNA levels, was similar in normo and hyperlipidemic subjects carrying the deletion. Analysis of the apo E isoforms revealed that most of the e2 allele carriers in this family, including the two normolipidemic 5-kb deletion carriers, were found to have LDL-cholesterol levels substantially lower than subjects with the other apo E isoforms. Thus, this kindred providesevidence for the existence of a gene or genes, including the apo e2 allele, with profound effects on LDL-cholesterol levels.

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Documento generato il 28/11/20 alle ore 17:59:34