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Article: Mutation-function analysis in the lipoprotein lipase gene of Chinese patients with hypertriglyceridemic type 2 diabetes

TitleMutation-function analysis in the lipoprotein lipase gene of Chinese patients with hypertriglyceridemic type 2 diabetes
Authors
Issue Date2003
Citation
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae, 2003, v. 25 n. 2, p. 134-141 How to Cite?
AbstractOBJECTIVE: To investigate the role of lipoprotein lipase (LPL) gene on Chinese patients with hypertriglyceridemic type 2 diabetes. METHODS: Three subject groups, including hypertriglyceridemic group, normalipidemic type 2 diabetes group and healthy controls, were recruited and screened for sequence changes in LPL gene with PCR, SSCP, restriction analysis and direct DNA sequencing. LPL mass and activity in post-heparin plasma and in in vitro expression were investigated. Comparative modeling was performed via Swiss-PDB Viewer to provide the potential 2-D structures of wildtype and mutant proteins. RESULTS: Four missense mutations, Ala71Thr, Val18Ile, Gly188Glu and Glu242Lys, were identified in patients with hypertriglyceridemic type 2 diabetes, and not in both normalipidemic diabetes and the control subjects. The four missense mutations were located in the highly conserved amino acid sites, which are involved in highly conserved exon 3, 5, or 6 regions. They led to reduced LPL mass and enzyme activities in both post-heparin plasma and in vitro expression. The modeled structures displayed the differences to a great extent between the mutant and wide-type molecules. CONCLUSION: These results indicated that the 4 missense mutations lead to LPL deficiency and subsequent hypertriglyceridemia. The LPL deficiency predispose a progressive diabetic pathway to those affected individuals. LPL gene is one of susceptibility gene for hypertriglyceridemic type 2 diabetes.
Persistent Identifierhttp://hdl.handle.net/10722/148442
ISSN
2015 SCImago Journal Rankings: 0.151

 

DC FieldValueLanguage
dc.contributor.authorYang, Ten_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorTsang, MWen_US
dc.contributor.authorChan, LYen_US
dc.contributor.authorPoon, PMen_US
dc.contributor.authorHuang, SZen_US
dc.contributor.authorPang, CPen_US
dc.date.accessioned2012-05-29T06:13:00Z-
dc.date.available2012-05-29T06:13:00Z-
dc.date.issued2003en_US
dc.identifier.citationZhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae, 2003, v. 25 n. 2, p. 134-141en_US
dc.identifier.issn1000-503Xen_US
dc.identifier.urihttp://hdl.handle.net/10722/148442-
dc.description.abstractOBJECTIVE: To investigate the role of lipoprotein lipase (LPL) gene on Chinese patients with hypertriglyceridemic type 2 diabetes. METHODS: Three subject groups, including hypertriglyceridemic group, normalipidemic type 2 diabetes group and healthy controls, were recruited and screened for sequence changes in LPL gene with PCR, SSCP, restriction analysis and direct DNA sequencing. LPL mass and activity in post-heparin plasma and in in vitro expression were investigated. Comparative modeling was performed via Swiss-PDB Viewer to provide the potential 2-D structures of wildtype and mutant proteins. RESULTS: Four missense mutations, Ala71Thr, Val18Ile, Gly188Glu and Glu242Lys, were identified in patients with hypertriglyceridemic type 2 diabetes, and not in both normalipidemic diabetes and the control subjects. The four missense mutations were located in the highly conserved amino acid sites, which are involved in highly conserved exon 3, 5, or 6 regions. They led to reduced LPL mass and enzyme activities in both post-heparin plasma and in vitro expression. The modeled structures displayed the differences to a great extent between the mutant and wide-type molecules. CONCLUSION: These results indicated that the 4 missense mutations lead to LPL deficiency and subsequent hypertriglyceridemia. The LPL deficiency predispose a progressive diabetic pathway to those affected individuals. LPL gene is one of susceptibility gene for hypertriglyceridemic type 2 diabetes.en_US
dc.languageengen_US
dc.relation.ispartofZhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicaeen_US
dc.subject.meshAsian Continental Ancestry Groupen_US
dc.subject.meshDiabetes Mellitus, Type 2 - Complications - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Predisposition To Diseaseen_US
dc.subject.meshHumansen_US
dc.subject.meshHypertriglyceridemia - Complications - Enzymology - Geneticsen_US
dc.subject.meshLipoprotein Lipase - Geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutation, Missenseen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshPolymorphism, Single-Stranded Conformationalen_US
dc.titleMutation-function analysis in the lipoprotein lipase gene of Chinese patients with hypertriglyceridemic type 2 diabetesen_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.pmid12905705en_US
dc.identifier.scopuseid_2-s2.0-3042744345en_US
dc.identifier.volume25en_US
dc.identifier.issue2en_US
dc.identifier.spage134en_US
dc.identifier.epage141en_US

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