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Titolo:
MUTATIONS IN EXON-3 OF THE LIPOPROTEIN-LIPASE GENE SEGREGATING IN A FAMILY WITH HYPERTRIGLYCERIDEMIA, PANCREATITIS, AND NON-INSULIN-DEPENDENT DIABETES
Autore:
WILSON DE; HATA A; KWONG LK; LINGAM A; SHUHUA J; RIDINGER DN; YEAGER C; KALTENBORN KC; IVERIUS PH; LALOUEL JM;
Indirizzi:
VET ADM MED CTR,ENDOCRINOL SECT 111E,500 FOOTHILL BLVD SALT LAKE CITYUT 84124 UNIV UTAH,HOWARD HUGHES MED INST SALT LAKE CITY UT 84132 UNIV UTAH,DEPT HUMAN GENET SALT LAKE CITY UT 84132 UNIV UTAH,HLTH SCI CTR,DEPT INTERNAL MED,DIV ENDOCRINOL & METAB SALT LAKE CITY UT 84132
Titolo Testata:
The Journal of clinical investigation
fascicolo: 1, volume: 92, anno: 1993,
pagine: 203 - 211
SICI:
0021-9738(1993)92:1<203:MIEOTL>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEPATIC TRIGLYCERIDE LIPASE; NONSENSE MUTATION; RADIATION INACTIVATION; CATALYZED HYDROLYSIS; MOLECULAR-PROPERTIES; MISSENSE MUTATION; DNA-SEQUENCE; DEFICIENCY; HETEROZYGOTE; EXPRESSION;
Keywords:
CHYLOMICRONS; FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY; LIPOPROTEIN LIPASE; NON-INSULIN-DEPENDENT DIABETES-MELLITUS; PANCREAS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
57
Recensione:
Indirizzi per estratti:
Citazione:
D.E. Wilson et al., "MUTATIONS IN EXON-3 OF THE LIPOPROTEIN-LIPASE GENE SEGREGATING IN A FAMILY WITH HYPERTRIGLYCERIDEMIA, PANCREATITIS, AND NON-INSULIN-DEPENDENT DIABETES", The Journal of clinical investigation, 92(1), 1993, pp. 203-211

Abstract

A proband with chylomicronemia, pancreatitis, and non-insulin-dependent diabetes (NIDDM) bears two different mutations in exon 3 of the lipoprotein lipase (LPL) gene: a missense mutation, 75Arg --> Ser, inherited through the paternal line and a truncation, 73Tyr --> Ter, throughthe maternal line. NIDDM appeared to be independently segregating. The R75S mutant was studied in extracts and media from transfected COS-1cells. Detectable amounts of catalytically competent R75S LPL suggested destabilization of the active homodimer as with exon 5 mutants (Hata et al. 1992. J. Biol. Chem. 267: 20132-20139). Hydrolysis of a short-chain fatty acid ester indicated that R75S does not directly affect activation of LPL by apoC-II. Subjects with NIDDM and wild-type LPL, and nondiabetic middle-aged carriers of the 73Tyr --> Ter truncation hadmoderate hypertriglyceridemia (260-521 mg/dl) and reduced high density lipoprotein cholesterol. A maternal aunt with NIDDM carried the truncation. Her phenotype (triglycerides of 5,300 mg/dl, eruptive xanthomatosis, and recurrent pancreatitis) was as severe as that in homozygotes or compound heterozygotes. We conclude: (a) diabetic carriers of dysfunctional LPL alleles are at risk for severe lipemia; and (b) the physiologic defects in NIDDM may be additive or synergistic with heterozygous LPL deficiency.

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Documento generato il 17/01/21 alle ore 17:40:52