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Article: Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.

TitleGenotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.
Authors
Issue Date2002
Citation
Human Mutation, 2002, v. 20 n. 3, p. 232-233 How to Cite?
AbstractWe screened 160 unrelated Chinese hypertriglyceridemic subjects for sequence alterations in the promoter and the 10 exons of the lipoprotein lipase (LPL) gene. We identified one reported mutation (L252R), one common polymorphism (S447X), and six novel mutations: V181I, C283Y, S298R and S338F (found in single individuals), L252V (in two individuals), and A71T (in three individuals). Screening of family members of the above probands revealed a total of 19 mutation carriers, most of whom, though not all, displayed reduced LPL activity and mass when compared to normolipidemic control subjects. In in vitro expression studies, A71T, V181I, L252R, L252V and C283Y decreased the specific activity of the gene product. Interestingly, S298R had no effect on the catalytic activity while S338F increased it. A71T and C283Y reduced the secretion of the mutant proteins significantly while V181I, S298R and S338F had mild effects only. The total LPL mass of all the mutant constructs was reduced compared to that of the wild type construct, probably due to the instabilities of the mutant mRNA or the mutant protein. The heterogeneity in phenotypic effects of these mutations is a likely consequence of their variable effects on proteoglycan binding, conformation and interactions with other secondary genetic or environmental factors. Copyright 2002 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/148295
ISSN
2015 SCImago Journal Rankings: 3.670
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChan, LYen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorMak, YTen_US
dc.contributor.authorTomlinson, Ben_US
dc.contributor.authorTsang, MWen_US
dc.contributor.authorBaum, Len_US
dc.contributor.authorMasarei, JRen_US
dc.contributor.authorPang, CPen_US
dc.date.accessioned2012-05-29T06:12:03Z-
dc.date.available2012-05-29T06:12:03Z-
dc.date.issued2002en_US
dc.identifier.citationHuman Mutation, 2002, v. 20 n. 3, p. 232-233en_US
dc.identifier.issn1098-1004en_US
dc.identifier.urihttp://hdl.handle.net/10722/148295-
dc.description.abstractWe screened 160 unrelated Chinese hypertriglyceridemic subjects for sequence alterations in the promoter and the 10 exons of the lipoprotein lipase (LPL) gene. We identified one reported mutation (L252R), one common polymorphism (S447X), and six novel mutations: V181I, C283Y, S298R and S338F (found in single individuals), L252V (in two individuals), and A71T (in three individuals). Screening of family members of the above probands revealed a total of 19 mutation carriers, most of whom, though not all, displayed reduced LPL activity and mass when compared to normolipidemic control subjects. In in vitro expression studies, A71T, V181I, L252R, L252V and C283Y decreased the specific activity of the gene product. Interestingly, S298R had no effect on the catalytic activity while S338F increased it. A71T and C283Y reduced the secretion of the mutant proteins significantly while V181I, S298R and S338F had mild effects only. The total LPL mass of all the mutant constructs was reduced compared to that of the wild type construct, probably due to the instabilities of the mutant mRNA or the mutant protein. The heterogeneity in phenotypic effects of these mutations is a likely consequence of their variable effects on proteoglycan binding, conformation and interactions with other secondary genetic or environmental factors. Copyright 2002 Wiley-Liss, Inc.en_US
dc.languageengen_US
dc.relation.ispartofHuman mutationen_US
dc.subject.meshCatalysisen_US
dc.subject.meshChinaen_US
dc.subject.meshDna - Chemistry - Geneticsen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHumansen_US
dc.subject.meshHypertriglyceridemia - Blood - Geneticsen_US
dc.subject.meshLipids - Blooden_US
dc.subject.meshLipoprotein Lipase - Genetics - Metabolismen_US
dc.subject.meshMaleen_US
dc.subject.meshMutationen_US
dc.subject.meshPhenotypeen_US
dc.titleGenotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.en_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/humu.9054-
dc.identifier.pmid12204001-
dc.identifier.scopuseid_2-s2.0-0036724934en_US
dc.identifier.volume20en_US
dc.identifier.issue3en_US
dc.identifier.spage232en_US
dc.identifier.epage233en_US
dc.identifier.isiWOS:000209087900007-

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