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Article: Novel mitochondrial 16S rRNA mutation, 3200T → C, associated with adult-onset type 2 diabetes

TitleNovel mitochondrial 16S rRNA mutation, 3200T → C, associated with adult-onset type 2 diabetes
Authors
Issue Date2002
PublisherChinese Medical Association. The Journal's web site is located at http://www.cmj.org/
Citation
Chinese Medical Journal, 2002, v. 115 n. 5, p. 753-758 How to Cite?
AbstractObjective. To investigate the role of a potential diabetes-related mitochondrial region, which includes two previously reported mutations, 3243A → G and 3316G → A, in Chinese patients with adult-onset type 2 diabetes. Methods. A total of 277 patients and 241 normal subjects were recruited for the study. Mitochondrial nt 3116 - 3353, which spans the 16S rRNA, tRNAleu(UUR) and the NADH dehydrogenase 1 gene, were detected using polymerase chain reaction (PCR), direct DNA sequencing, PCR-restriction fragment length polymorphism and allele-specific PCR. Variants were analyzed by two-tailed Fisher exact test. The function of the variants in 16S rRNA were predicted for minimal free energy secondary structures by RNA folding software mfold version 3. Results. Four homoplasmic nucleotide substitutions were observed, 3200T → C, 3206C → T, 3290T → C and 3316G→ A. Only the 3200T → C mutation is present in the diabetic population and absent in the control population. No statistically significant associations were found between the other three variants and type 2 diabetes. The 3200T → C and 3206C→ T nucleotide substitutions located in 16S rRNA are novel variants. The 3200T→ C caused a great alteration in the minimal free energy secondary structure model while the 3206C→ T altered normal 16S rRNA structure little. Conclusions. The results suggest that the 3200T → C mutation is linked to the development of type 2 diabetes, but that the other observed mutations are neutral. In contrast to the Japanese studies, the 3316G → A does not appear to be related to type 2 diabetes.
Persistent Identifierhttp://hdl.handle.net/10722/148277
ISSN
2015 Impact Factor: 0.957
2015 SCImago Journal Rankings: 0.428
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorYang, Ten_US
dc.contributor.authorChingWan, Len_US
dc.contributor.authorManWo, Ten_US
dc.contributor.authorSuiFan, Ten_US
dc.contributor.authorYw, KGen_US
dc.contributor.authorYs, CLen_US
dc.contributor.authorMk, PPen_US
dc.contributor.authorWu, Xen_US
dc.contributor.authorChiPui, Pen_US
dc.date.accessioned2012-05-29T06:11:57Z-
dc.date.available2012-05-29T06:11:57Z-
dc.date.issued2002en_US
dc.identifier.citationChinese Medical Journal, 2002, v. 115 n. 5, p. 753-758en_US
dc.identifier.issn0366-6999en_US
dc.identifier.urihttp://hdl.handle.net/10722/148277-
dc.description.abstractObjective. To investigate the role of a potential diabetes-related mitochondrial region, which includes two previously reported mutations, 3243A → G and 3316G → A, in Chinese patients with adult-onset type 2 diabetes. Methods. A total of 277 patients and 241 normal subjects were recruited for the study. Mitochondrial nt 3116 - 3353, which spans the 16S rRNA, tRNAleu(UUR) and the NADH dehydrogenase 1 gene, were detected using polymerase chain reaction (PCR), direct DNA sequencing, PCR-restriction fragment length polymorphism and allele-specific PCR. Variants were analyzed by two-tailed Fisher exact test. The function of the variants in 16S rRNA were predicted for minimal free energy secondary structures by RNA folding software mfold version 3. Results. Four homoplasmic nucleotide substitutions were observed, 3200T → C, 3206C → T, 3290T → C and 3316G→ A. Only the 3200T → C mutation is present in the diabetic population and absent in the control population. No statistically significant associations were found between the other three variants and type 2 diabetes. The 3200T → C and 3206C→ T nucleotide substitutions located in 16S rRNA are novel variants. The 3200T→ C caused a great alteration in the minimal free energy secondary structure model while the 3206C→ T altered normal 16S rRNA structure little. Conclusions. The results suggest that the 3200T → C mutation is linked to the development of type 2 diabetes, but that the other observed mutations are neutral. In contrast to the Japanese studies, the 3316G → A does not appear to be related to type 2 diabetes.en_US
dc.languageengen_US
dc.publisherChinese Medical Association. The Journal's web site is located at http://www.cmj.org/en_US
dc.relation.ispartofChinese Medical Journalen_US
dc.subject.meshAge Of Onseten_US
dc.subject.meshAgeden_US
dc.subject.meshAllelesen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshDna, Mitochondrial - Chemistry - Geneticsen_US
dc.subject.meshDiabetes Mellitus, Type 2 - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshModels, Molecularen_US
dc.subject.meshNucleic Acid Conformationen_US
dc.subject.meshPoint Mutationen_US
dc.subject.meshPolymerase Chain Reaction - Methodsen_US
dc.subject.meshPolymorphism, Restriction Fragment Lengthen_US
dc.subject.meshRna, Ribosomal, 16S - Chemistry - Geneticsen_US
dc.titleNovel mitochondrial 16S rRNA mutation, 3200T → C, associated with adult-onset type 2 diabetesen_US
dc.typeArticleen_US
dc.identifier.emailChingWan, L:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityChingWan, L=rp00260en_US
dc.description.naturelink_to_OA_fulltexten_US
dc.identifier.pmid12133550-
dc.identifier.scopuseid_2-s2.0-0036266557en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0036266557&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume115en_US
dc.identifier.issue5en_US
dc.identifier.spage753en_US
dc.identifier.epage758en_US
dc.identifier.isiWOS:000176005300024-
dc.publisher.placeChinaen_US

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