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Titolo:
PREVALENCE OF ALLELES ENCODING DEFECTIVE LIPOPROTEIN-LIPASE IN HYPERTRIGLYCERIDEMIC PATIENTS OF FRENCH-CANADIAN DESCENT
Autore:
MINNICH A; KESSLING A; ROY M; GIRY C; DELANGAVANT G; LAVIGNE J; LUSSIERCACAN S; DAVIGNON J;
Indirizzi:
CLIN RES INST MONTREAL,110 PINE AVE W MONTREAL PQ H2W 1R7 CANADA ST MARYS HOSP,SCH MED LONDON W2 1PG ENGLAND
Titolo Testata:
Journal of lipid research
fascicolo: 1, volume: 36, anno: 1995,
pagine: 117 - 124
SICI:
0022-2275(1995)36:1<117:POAEDL>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL COMBINED HYPERLIPIDEMIA; MISSENSE MUTATION; DIFFERENT ANCESTRIES; PLASMA-LIPOPROTEINS; APOLIPOPROTEIN-E; GENE; DEFICIENCY; TRIGLYCERIDE; PROTEIN; CHYLOMICRONEMIA;
Keywords:
LIPOPROTEIN LIPASE VARIANT; PLASMA TRIGLYCERIDE; LIPOPROTEIN LIPASE DEFICIENCY; HYPERTRIGLYCERIDEMIA; TYPE IV HYPERLIPOPROTEINEMIA; TYPE V HYPERLIPOPROTEINEMIA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
38
Recensione:
Indirizzi per estratti:
Citazione:
A. Minnich et al., "PREVALENCE OF ALLELES ENCODING DEFECTIVE LIPOPROTEIN-LIPASE IN HYPERTRIGLYCERIDEMIC PATIENTS OF FRENCH-CANADIAN DESCENT", Journal of lipid research, 36(1), 1995, pp. 117-124

Abstract

It has previously been estimated that due to genetic ''founder effects,'' 97% of lipoprotein lipase (LPL) gene alleles conferring type I hyperlipoproteinemia (HLP) in French Canadians encode one of the following mutant LPL forms: Gly188 --> Glu, Pro207 --> Leu, or Asp250 --> Asn. Although the genetic basis of type I HLP is known to be homozygosityfor LPL deficiency, that for other forms of HLP, especially types IV,and V HLP, is not clear. It is also unclear whether hypertriglyceridemia due to very low density lipoprotein (VLDL) overproduction can be distinguished phenotypically from that due to defective catabolism of plasma lipoprotein triglycerides. The present study took advantage of the unique circumstances inherent in the relatively genetically isolated French Canadian population to address these questions. This study was carried out in order to determine the prevalence of these three mutant LPL alleles, and of a fourth encoding LPL Asn291 --> Ser, in FrenchCanadian patients with hypertriglyceridemia. The prevalence of heterozygosity for one of the four LPL mutant alleles in nondiabetic, nonobese hypertriglyceridemic subjects was 16 of 95 type IV HLP (17%) and 4 of 26 type V HLP cases (15%). These alleles were not found in over 150normotriglyceridemic subjects, supporting the likelihood that the mutant alleles were at least partially responsible for HLP. In addition, heterozygosity for LPL deficiency due to one of these mutations apparently did not contribute to hypoalphalipoproteinemia, and was observed in 3 of 39 subjects with type III HLP. The results suggest that in French Canadians, 15-20% of type IV and V HLP cases are associated with these genetic defects in plasma triglyceride catabolism.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/11/20 alle ore 18:47:31