title: [Molecular scanning of candidate mtDNA gene fragment in diabetic pedigrees].
abstract: OBJECTIVE
  To explore novel pathogenic mutation in the mitochondrial DNA gene in diabetic pedigree.
  
  
  METHODS
  Twenty-eight suspected mitochondrial DNA diabetic families were recruited. The gene fragment was produced by PCR, and mutation was detected by direct sequencing.
  
  
  RESULTS
  In one pedigree, the proband and her mother were found carrying the most common nt3243 A --> G mutation and another 16S rRNA 3205C --> T mutation. But only 3205C --> T was found in her affected brother. All the two patients were deaf and developed diabetes in early age, characterized by impaired beta cell function and low body mass index (BMI). The proband had relatively higher lactic acid concentration than normal individuals. A novel ND1 gene 3434 A --> G(TAT --> TGT) mutation was explored in another proband with deafness and her affected family members.
  
  
  CONCLUSIONS
  16SrRNA 3205C --> T mutation was found in a mitochondrial diabetes mellitus pedigree, implying its potential pathogenic role in diabetes. Another novel ND1 3434 A --> G mutation was found in another diabetic pedigree. Because this mutation causes amino acid change (Tyr --> Cys) and is co-segregated with diabetes, it may be diabetogenic.
authors.affiliation: Endocrine Division, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041 PR China. renyan22@msn.com
authors.forename: Yan
authors.initials: Y
authors.lastname: Ren
authors.forename: Xiu-jun
authors.initials: XJ
authors.lastname: Li
authors.forename: Hao-ming
authors.initials: HM
authors.lastname: Tian
authors.forename: Jin-zhong
authors.initials: JZ
authors.lastname: Liang
authors.forename: Ling-chuan
authors.initials: LC
authors.lastname: Han
authors.forename: Xiang-xun
authors.initials: XX
authors.lastname: Zang
authors.forename: Hong-lin
authors.initials: HL
authors.lastname: Yu
authors.forename: Ye-rong
authors.initials: YR
authors.lastname: Yu
authors.forename: Rui
authors.initials: R
authors.lastname: Liu
authors.forename: Gui-zhi
authors.initials: GZ
authors.lastname: Zhao
authors.forename: Jia-nan
authors.initials: JN
authors.lastname: Wang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012336:RNA, Ribosomal, 16S / Q000032:analysis / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012336:RNA, Ribosomal, 16S