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Titolo:
VARIABLE EXPRESSION OF FAMILIAL DYSBETALIPOPROTEINEMIA IN APOLIPOPROTEIN E(ASTERISK)2(LYS146-]GLN) ALLELE CARRIERS
Autore:
DEKNIJFF P; VANDENMAAGDENBERG AMJM; BOOMSMA DI; STALENHOEF AFH; SMELT AHM; KASTELEIN JJP; MARAIS AD; FRANTS RR; HAVEKES LM;
Indirizzi:
TNO,PG,GAUBIUS LAB,POB 430 2300 AK LEIDEN NETHERLANDS NETHERLANDS ORG APPL SCI RES,INST PREVENT & HLTH RES,GAUBIUS LAB LEIDEN NETHERLANDS LEIDEN UNIV,CTR GENET MED,DEPT HUMAN GENET LEIDEN NETHERLANDS FREE UNIV AMSTERDAM,DEPT PSYCHOPHYSIOL AMSTERDAM NETHERLANDS UNIV NIJMEGEN HOSP,DEPT GEN INTERNAL MED 6500 HB NIJMEGEN NETHERLANDS LEIDEN UNIV HOSP,DEPT GEN INTERNAL MED LEIDEN NETHERLANDS ACAD MED CTR,DEPT VASC MED AMSTERDAM NETHERLANDS UNIV CAPE TOWN,DEPT MED CAPE TOWN 7925 SOUTH AFRICA
Titolo Testata:
The Journal of clinical investigation
fascicolo: 3, volume: 94, anno: 1994,
pagine: 1252 - 1262
SICI:
0021-9738(1994)94:3<1252:VEOFDI>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
LOW-DENSITY LIPOPROTEINS; HYPERLIPOPROTEINEMIA TYPE-III; RECEPTOR-BINDING ACTIVITY; AMINO-ACID-SEQUENCE; PEDIGREE ANALYSIS; E-APOPROTEIN; APOC1 GENE; E ISOFORMS; SITE; HETEROGENEITY;
Keywords:
DOMINANT MODE OF INHERITANCE; FAMILY STUDIES; APOE3-LEIDEN; TYPE III HYPERLIPOPROTEINEMIA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
51
Recensione:
Indirizzi per estratti:
Citazione:
P. Deknijff et al., "VARIABLE EXPRESSION OF FAMILIAL DYSBETALIPOPROTEINEMIA IN APOLIPOPROTEIN E(ASTERISK)2(LYS146-]GLN) ALLELE CARRIERS", The Journal of clinical investigation, 94(3), 1994, pp. 1252-1262

Abstract

Genetic and biochemical studies were carried out in 96 relatives of six independently ascertained probands with familial dysbetalipoproteinemia (FD) carrying the APOE2 (Lys146-->Gln) allele. Compared to noncarriers, the 40 heterozygous APOE2(Lys146-->Gln) allele carriers exhibited markedly increased mean levels of cholesterol and triglyceride inthe very low density lipoproteins (VLDL) (1.89+/-0.37 vs 0.30+/-0.27 and 1.86+/-0.37 vs 0.68+/-0.27 mmol/liter, respectively) and plasma apolipoprotein (apo)E levels (28.1+/-1.6 vs 4.6+/-1.1 mg/dl), which is characteristic for FD. By means of a pedigree-based maximum likelihood method we calculated that carrier-status accounted for 57% and 71%, respectively, of the total variance of the ratio (VLDL + IDL)-cholesterol/plasma triglyceride and plasma apoE levels. APOE2(Lys146-->Gln) andAPOE3-Leiden allele carriers were found to differ significantly in: (a) plasma apoE levels, (b) in the amounts of triglycerides in the VLDL and VLDL + IDL fraction, and (c) in the amount of cholesterol in theVLDL and VLDL + IDL fraction relative to the amount of triglyceride in these fractions. In the APOE2 (Lys146-->Gln) allele carriers the VLDL and VLDL + IDL fraction is relatively rich in triglycerides as compared with that in APOE3-Leiden carriers. We hypothesize that these two rare mutations of apoE both lead to dominantly inherited forms of FDalong different underlying metabolic defects.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/20 alle ore 10:27:09