A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry

Autor: Ewa Ehrenborg, T. Bruin, Michael R. Hayden, Pascale Benlian, Jean Luc De Gennes, John J.P. Kastelein, Jean Furioli, L. Foubert
Přispěvatelé: Other departments, Faculteit der Geneeskunde
Rok vydání: 1997
Předmět:
Zdroj: Karolinska Institutet
Human mutation, 10(3), 179-185. Wiley-Liss Inc.
Human Mutation, 10, 179-185. Wiley-Liss Inc.
ISSN: 1098-1004
1059-7794
DOI: 10.1002/(sici)1098-1004(1997)10:3<179::aid-humu1>3.3.co;2-n
Popis: Lipoprotein lipase (LPL) is the rate-limiting enzyme for the hydrolysis of triglyceride-rich lipoproteins. Numerous LPL gene mutations have been described as a cause of familial chylomicronemia in various populations. In general, allelic heterogeneity is observed in LPL deficiency in different populations. However, a founder effect has been reported in certain populations, such as French Canadians. Although familial chylomicronemia is observed in Morocco, the molecular basis for the disease remains unknown. Here, we report two unrelated Moroccan families of Berber ancestry, ascertained independently in Holland and France. In both probands, familial chylomicronemia manifested in infancy and was complicated with acute pancreatitis at age 2 years. Both probands were homozygous for a Ser259Arg mutation, which results in the absence of LPL catalytic activity both in vivo and in vitro. In heterozygous relatives, a partial decrease in plasma LPL activity was observed, sometimes associated with combined hyperlipidemia. This mutation previously unreported in other populations segregated on an identical haplotype, rarely observed in Caucasians, in both families. Therefore, LPL deficiency is a cause of familial chylomicronemia in Morocco and may result from a founder effect in patients of Berber ancestry.
Databáze: OpenAIRE
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