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Titolo:
Severe hypertriglyceridemia with plasma inhibitory factor(s) on lipoprotein lipase activity in a patient with a common Ser(447)-Ter LPL mutation
Autore:
Zhu, YJ; Bujo, H; Takahashi, K; Taira, K; Kobayashi, J; Koshikawa, H; Sasaki, Y; Kanoh, T; Saito, Y;
Indirizzi:
Chiba Univ, Grad Sch Med, Dept Genome Res & Clin Applicat M6, Chuo Ku, Chiba 2600856, Japan Chiba Univ Chiba Japan 2600856 pplicat M6, Chuo Ku, Chiba 2600856, Japan Chiba Univ, Grad Sch Med, Dept Clin Cell Biol F5, Chuo Ku, Chiba 2600856, Japan Chiba Univ Chiba Japan 2600856 ll Biol F5, Chuo Ku, Chiba 2600856, Japan Juntendo Univ, Juntendo Urayasu Hosp, Sch Med, Dept Internal Med, Urayasu,Chiba 2790002, Japan Juntendo Univ Urayasu Chiba Japan 2790002 d, Urayasu,Chiba 2790002, Japan
Titolo Testata:
CLINICA CHIMICA ACTA
fascicolo: 1-2, volume: 308, anno: 2001,
pagine: 139 - 146
SICI:
0009-8981(200106)308:1-2<139:SHWPIF>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
LIPID-INTERFACE RECOGNITION; APOLIPOPROTEIN-C-III; I HYPERLIPIDEMIA; UREMIC PLASMA; GENE; CODON; DEFICIENCY; SEQUENCE; VARIANTS; DEFECT;
Keywords:
hypertriglyceridemia; lipoprotein lipase (LPL); inhibitory factor(s); LPL mutation (Ser(447)-Ter);
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
32
Recensione:
Indirizzi per estratti:
Indirizzo: Bujo, H Chiba Univ, Grad Sch Med, Dept Genome Res & Clin Applicat M6, ChuoKu, 1-8-1 Inohana, Chiba 2600856, Japan Chiba Univ 1-8-1 Inohana Chiba Japan 2600856 Chiba 2600856, Japan
Citazione:
Y.J. Zhu et al., "Severe hypertriglyceridemia with plasma inhibitory factor(s) on lipoprotein lipase activity in a patient with a common Ser(447)-Ter LPL mutation", CLIN CHIM A, 308(1-2), 2001, pp. 139-146

Abstract

Severe hypertriglyceridemia is a major risk for acute pancreatitis. So far, several mutations on the lipoprotein lipase (LPL) gene causing type I hyperlipidemia have been identified. However, the common mutation Ser(447)-Terhas been recently proposed to have a lowering effect on serum triglycerideconcentrations in the general population. In this study, we analyzed bloodfrom a patient suffering from severe hypertriglyceridemia and pancreatitiswith the mutation on the lipoprotein lipase gene, Ser(447)-Ter. The patient's plasma showed inhibitory effects on the LPL activities from normal subjects. The bottom fraction separated by ultracentrifugation revealed enhanced effects as an inhibitory factor. The inhibitory effect observed in the bottom Fraction was dose-dependent, stable at treatment of 65 degreesC for 30min, and decreased significantly after bring dialyzed using membranes witha cut-off molecular weight of 3500 or 6000 Da. The inhibitory effect was significantly higher when the post-heparin plasma was used from the patient or a subject with the same LPL mutation as an LPL source, compared to that from normal subjects. These results suggest that the patient has inhibitor): factors in his plasma. Such inhibitory Factors might cause severe hypertriglyceridemia in a case with the common mutation, which has been proposed to show the lowing effect on serum triglyceride concentrations in the general population. (C) 2001 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/20 alle ore 08:08:31