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Titolo:
A MUTATION IN THE LIPOPROTEIN-LIPASE GENE ASSOCIATED WITH HYPERLIPOPROTEINEMIA TYPE-T IN MINK - STUDIES ON LIPID AND LIPASE LEVELS IN HETEROZYGOTES
Autore:
LINDBERG A; NORDSTOGA K; CHRISTOPHERSEN B; SAVONEN R; VANTOL A; OLIVECRONA G;
Indirizzi:
UMEA UNIV,DEPT BIOCHEM MED S-90187 UMEA SWEDEN UMEA UNIV,DEPT BIOCHEM MED S-90187 UMEA SWEDEN NORWEGIAN COLL VET MED OSLO NORWAY UNIV OSLO,NATL HOSP,INST CLIN BIOCHEM OSLO NORWAY ERASMUS UNIV,DEPT BIOCHEM NL-3000 DR ROTTERDAM NETHERLANDS
Titolo Testata:
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
fascicolo: 3, volume: 1, anno: 1998,
pagine: 529 - 538
SICI:
1107-3756(1998)1:3<529:AMITLG>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHOLESTERYL ESTER TRANSFER; HIGH-DENSITY-LIPOPROTEIN; HUMAN HEPATIC LIPASE; PANCREATIC LIPASE; CDNA SEQUENCE; MISSENSE MUTATION; EXTENDED PEDIGREE; DEFICIENCY CLD; MESSENGER-RNA; GUINEA-PIG;
Keywords:
MESSENGER-RNA; CDNA; CHOLESTERYL ESTER TRANSFER PROTEIN; KIDNEY; ADIPOSE TISSUE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
49
Recensione:
Indirizzi per estratti:
Citazione:
A. Lindberg et al., "A MUTATION IN THE LIPOPROTEIN-LIPASE GENE ASSOCIATED WITH HYPERLIPOPROTEINEMIA TYPE-T IN MINK - STUDIES ON LIPID AND LIPASE LEVELS IN HETEROZYGOTES", INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 1(3), 1998, pp. 529-538

Abstract

Severe hypertriglyceridemia was previously observed in mink. Affectedanimals had no detectable lipoprotein lipase activity, but normal amounts of lipoprotein lipase protein in post-heparin plasma. We have nowcloned cDNA for lipoprotein lipase from normal mink and identified a single point mutation in the affected animals which most likely explains the deficiency of active lipase. The mutation is located in exon 6 and results in a Pro214Leu substitution. In heterozygote mink the levels of lipoprotein lipase activity and mass in post-heparin plasma werelower than in normal mink, but could not be used to identify carriersof the mutation. In some tissues (heart, muscle, kidney and lung), lipoprotein lipase activity was decreased to about 50%. In adipose tissue there seemed to be a mechanism to compensate for the mutation, resulting in increased mass and approximately the same activity of lipoprotein lipase as in animals not carrying the mutation. Mink had high lipoprotein lipase activity and mass in kidneys, although the levels of mRNA in kidney were many fold lower than in adipose tissue. Mink had very low levels of cholesteryl eater transfer protein activity in plasma. This may contribute to the high levels of HDL in this animal species.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/07/20 alle ore 14:05:09