Cited by 13Lipid metabolism and disordersLymphatic Disorders and TreatmentsLipid metabolism and biosynthesis

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E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles

Lendon, Corinne L., Martinez, Alonso, Behrens, Isabel Maria, Kosik, Kenneth S., Madrigal, Lucia, Norton, Joanne, Neuman, Rosalind, Myers, Amanda, Busfield, Frances, Wragg, Michelle, Arcos, Mauricio, Viana, Juan Carlos Arango, Ossa, Jorge, Ruiz, Andres, Goate, Alison M., Lopera, Francisco·1997·Human Mutation

DOI 10.1002/(sici)1098-1004(1997)10:3

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Abstract

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

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Crossref · 10.1002/(sici)1098-1004(1997)10:3<186::aid-humu2>3.0.co;2-h

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Authors: Lendon, C. L., Martinez, A., Behrens, I. M., Kosik, K. S., Madrigal, L., Norton, J., Neuman, R., Myers, A., Busfield, F., Wragg, M., Arcos, M., Viana, J. C. A., Ossa, J., Ruiz, A., Goate, A. M., & Lopera, F.
Venue: Human Mutation
Publisher: Hindawi Limited
Published: 1997
Volume: 10
Issue: 3
Pages: 186-195
DOI: 10.1002/(sici)1098-1004(1997)10:3
OpenAlex: W7131827590
Cited by: 0
References: 61
FWCI: 0.00
Type: journal article
Language: en
Open access: closed
Licence: doi.wiley.com/10.1002/tdm_license_1.1 (tdm, 6817 d)
Locations: Pure Amsterdam UMC (publishedVersion)
Pure Amsterdam UMC (submittedVersion)
Topics: Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
Health Sciences › Medicine › Surgery › Lymphatic Disorders and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Lipid metabolism and biosynthesis
Keywords: lipoprotein lipase deficiency, familial chylomicronemia, LPL gene, founder effect, acute pancreatitis, mixed dyslipidemia, haplotypes, Moroccan families

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E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles

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