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Article: Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome

TitleMissense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome
Authors
Issue Date2006
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Citation
Clinica Chimica Acta, 2006, v. 364 n. 1-2, p. 256-259 How to Cite?
AbstractBackground: Chylomicronemia syndrome can be caused by 2 autosomal recessive disorders - lipoprotein lipase (LPL) deficiency and apolipoprotein C-II (apo C-II) deficiency. Methods: We described 2 siblings with chylomicronemia syndrome of a consanguineous family. To determine the molecular basis of chylomicronemia syndrome in this family, we performed direct DNA sequencing of the LPL and APOC2 genes of the proband. Results: A novel homozygous mutation, Leu72Pro, in the APOC2 gene was found in both siblings whereas their parents were carriers. No LPL mutations were detected in the siblings. Apo C-II contains 3 amphipathic alpha helices; the C-terminal alpha helix is composed of residues 64 to 74. Substitution of residue 72 from a helix former leucine to a helix breaker, proline, is predicted to change the secondary structure of the C-terminal helix and subsequently alter the interaction between apo C-II and LPL. Conclusions: To our knowledge, Leu72Pro is the first missense mutation identified in the C-terminal of apo C-II. The result is consistent with the current biochemical and structural findings that the C-terminal helix of apo C-II is important for activation of LPL. © 2005 Elsevier B.V. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/148444
ISSN
2015 Impact Factor: 2.799
2015 SCImago Journal Rankings: 1.040
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorYuen, YPen_US
dc.contributor.authorCheng, WFen_US
dc.contributor.authorChan, YWen_US
dc.contributor.authorTong, SFen_US
dc.date.accessioned2012-05-29T06:13:01Z-
dc.date.available2012-05-29T06:13:01Z-
dc.date.issued2006en_US
dc.identifier.citationClinica Chimica Acta, 2006, v. 364 n. 1-2, p. 256-259en_US
dc.identifier.issn0009-8981en_US
dc.identifier.urihttp://hdl.handle.net/10722/148444-
dc.description.abstractBackground: Chylomicronemia syndrome can be caused by 2 autosomal recessive disorders - lipoprotein lipase (LPL) deficiency and apolipoprotein C-II (apo C-II) deficiency. Methods: We described 2 siblings with chylomicronemia syndrome of a consanguineous family. To determine the molecular basis of chylomicronemia syndrome in this family, we performed direct DNA sequencing of the LPL and APOC2 genes of the proband. Results: A novel homozygous mutation, Leu72Pro, in the APOC2 gene was found in both siblings whereas their parents were carriers. No LPL mutations were detected in the siblings. Apo C-II contains 3 amphipathic alpha helices; the C-terminal alpha helix is composed of residues 64 to 74. Substitution of residue 72 from a helix former leucine to a helix breaker, proline, is predicted to change the secondary structure of the C-terminal helix and subsequently alter the interaction between apo C-II and LPL. Conclusions: To our knowledge, Leu72Pro is the first missense mutation identified in the C-terminal of apo C-II. The result is consistent with the current biochemical and structural findings that the C-terminal helix of apo C-II is important for activation of LPL. © 2005 Elsevier B.V. All rights reserved.en_US
dc.languageengen_US
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/ccaen_US
dc.relation.ispartofClinica Chimica Actaen_US
dc.subject.meshApolipoprotein C-Iien_US
dc.subject.meshApolipoproteins C - Deficiency - Geneticsen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshConsanguinityen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshHyperlipoproteinemia Type I - Enzymology - Geneticsen_US
dc.subject.meshInfanten_US
dc.subject.meshLipoprotein Lipase - Deficiency - Geneticsen_US
dc.subject.meshMutation, Missenseen_US
dc.subject.meshSequence Homology, Nucleic Aciden_US
dc.subject.meshSiblingsen_US
dc.subject.meshSyndromeen_US
dc.titleMissense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndromeen_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.doi10.1016/j.cca.2005.07.025en_US
dc.identifier.pmid16153625-
dc.identifier.scopuseid_2-s2.0-31044445974en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-31044445974&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume364en_US
dc.identifier.issue1-2en_US
dc.identifier.spage256en_US
dc.identifier.epage259en_US
dc.identifier.isiWOS:000235376800030-
dc.publisher.placeNetherlandsen_US

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