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Titolo:
Characterization of an apolipoprotein E3 variant (Arg 145 -> His) associated with mild hypertriglyceridemia
Autore:
Hidaka, H; Tozuka, M; Hidaka, E; Yamauchi, K; Ota, H; Honda, T; Katsuyama, T;
Indirizzi:
Shinshu Univ Hosp, Cent Clin Labs, Matsumoto, Nagano 3908621, Japan Shinshu Univ Hosp Matsumoto Nagano Japan 3908621 o, Nagano 3908621, Japan Shinshu Univ, Sch Med, Dept Lab Med, Matsumoto, Nagano 390, Japan Shinshu Univ Matsumoto Nagano Japan 390 Med, Matsumoto, Nagano 390, Japan
Titolo Testata:
ANNALS OF CLINICAL AND LABORATORY SCIENCE
fascicolo: 2, volume: 31, anno: 2001,
pagine: 163 - 170
SICI:
0091-7370(200104)31:2<163:COAAEV>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
HIGH-DENSITY-LIPOPROTEIN; HUMAN-PLASMA LIPOPROTEINS; RECEPTOR-BINDING ACTIVITY; HEPARAN-SULFATE PROTEOGLYCANS; AMINO-ACID-SEQUENCE; HUMAN-E APOPROTEIN; VERY-LOW-DENSITY; A-II COMPLEX; CHOLESTERYL ESTER; TRANSGENIC MICE;
Keywords:
apolipoprotein E; isoform; variant; polymorphism; hypertriglyceridemia; heparin; LDL-receptor;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
36
Recensione:
Indirizzi per estratti:
Indirizzo: Tozuka, M Shinshu Univ Hosp, Cent Clin Labs, 3-1-1 Asahi, Matsumoto, Nagano 3908621,Japan Shinshu Univ Hosp 3-1-1 Asahi Matsumoto Nagano Japan 3908621 pan
Citazione:
H. Hidaka et al., "Characterization of an apolipoprotein E3 variant (Arg 145 -> His) associated with mild hypertriglyceridemia", ANN CLIN L, 31(2), 2001, pp. 163-170

Abstract

In a proband (21-yr-old female), we previously identified an apolipoprotein (apo) E variant, apoE3 (Arg 145 --> His), with an isoelectric point midway between apoE3 and apoE2. ApoE gene analysis of 4 of the proband's kin indicated that 3 possess the same variant. All 4 had a high concentration of apoE in plasma, while 3 of 4 had hypertriglyceridemia. In the proband (who had no hypertriglyceridemia), most apoE was distributed in slow-alpha lipoproteins (predominantly in the form of apoE-AII heterodimer) and in larger molecules with apparent. molecular weights of 80 and 100 kDa. In the proband's brother (with hypertriglyceridemia), however, most apoE was distributed in slow pre-beta lipoproteins, predominantly in the form of monomeric apoE. In each subject, the concentration of apoE3 variant was significantly higher than that of normal apoE3 in the predominant apoE-rich lipoprotein. The apoE3 variant, which displayed a slightly reduced binding ability to LDL-receptor and heparin, may induce an accumulation of apoE-rich lipoproteins. These observations suggest that the difference in distribution of apoE3 variant in plasma lipoproteins between the proband and her brother (combined with its reduced affinity for the LDL receptor) may provide key insights into the pathogenesis of hypertriglyceridemia. (received 28 January 2001, accepted February 2001).

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/01/20 alle ore 15:55:52