title: Novel mutations found in mitochondrial diabetes in Chinese Han population.
abstract: Mitochondria provide cells with most of the energy in the form of ATP. Mutations in mitochondrial DNA (mtDNA) are associated with type 2 diabetes mellitus (T2DM) because ATP plays a critical role in the production and the release of insulin. To systematically determine mutant loci and to investigate their association with T2DM in Chinese Han population, 17 commonly reported mutant loci were screened in 236 cases of T2DM and 240 normal controls by PCR-RFLP, allele-specific PCR (AS-PCR) and DNA sequencing methods. Biological softwares were used to analyze the secondary structure of DNA, RNA and the corresponding proteins for missense mutations. Sixteen mutant loci were detected in total, of which five were novel, GenBank accession nos. were DQ092356, DQ473644 and DQ473645; they were mainly in16S rRNA, ND1 and ND4 gene. There was significant difference between the two groups for ND1 and ND4 genes mutation frequencies (ND1: P=0.001, OR=3.944, 95% CI 1.671-9.306; ND4: P=0.010, OR=5.818, 95% CI 1.275-26.537). No significant association was observed between the two groups for 5178A/C polymorphisms (P=0.418). Our study suggested that T3394C and A12026G might be associated with T2DM in Chinese Han population, and T2DM with mtDNA variant should be considered mitochondrial diabetes.
authors.affiliation: Genetic Diagnosis Center, Zhongnan Hospital, Wuhan University, Wuhan, Hubei, PR China.
authors.forename: Song-Mei
authors.initials: SM
authors.lastname: Liu
authors.forename: Xin
authors.initials: X
authors.lastname: Zhou
authors.forename: Fang
authors.initials: F
authors.lastname: Zheng
authors.forename: Xia
authors.initials: X
authors.lastname: Li
authors.forename: Fang
authors.initials: F
authors.lastname: Liu
authors.forename: Hong-Mei
authors.initials: HM
authors.lastname: Zhang
authors.forename: Yan
authors.initials: Y
authors.lastname: Xie
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D004272:DNA, Mitochondrial / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D004587:Electrophoresis, Agar Gel; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009245:NADH Dehydrogenase / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012336:RNA, Ribosomal, 16S / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; C098483:NADH dehydrogenase subunit 4; D012336:RNA, Ribosomal, 16S; D009245:NADH Dehydrogenase; C515075:NADH dehydrogenase subunit 1, human