title: Complete mtDNA genomes reveal similar penetrances of maternally inherited type 2 diabetes in two Chinese families.
abstract: Previous work suggests that mitochondrial DNA (mtDNA) derived from the maternal genome has a close affinity with type 2 diabetes. This would support a familial pattern for type 2 diabetes. Thereby, we analyzed complete mtDNA genomes from two families, A and B, from Southwest China that demonstrated maternally inherited type 2 diabetes. Our data support that mtDNA lineages from families A and B belong to haplogroups A4 and D4h1, respectively. This suggests that maternally inherited type 2 diabetes with similar penetrances can arise in Chinese individuals with strikingly different maternal genetic backgrounds. Two private coding region mutations (G13759A in MT-ND5 and G15930A in tRNA-Thr) were identified in family B. Further evolutionary and phylogenetic analyses suggest that both these mutations have multiple origins and are unlikely to be disease causing.
authors.affiliation: a Laboratory for Conservation and Utilization of Bio-resources , Yunnan University , Kunming , Yunnan Province , China .|b Department of endocrinology , the Second People's Hospital of Yunnan Province , Kunming , Yunnan Province , China .
authors.forename: Ying
authors.initials: Y
authors.lastname: Yang
authors.affiliation: a Laboratory for Conservation and Utilization of Bio-resources , Yunnan University , Kunming , Yunnan Province , China .|c Kunming College of Life Science, University of Chinese Academy of Sciences , Kunming , Yunnan Province , China .|d State Key Laboratory of Genetic Resources and Evolution , Kunming Institute of Zoology, Chinese Academy of Sciences , Kunming , Yunnan Province , China .
authors.forename: Taicheng
authors.initials: T
authors.lastname: Zhou
authors.affiliation: d State Key Laboratory of Genetic Resources and Evolution , Kunming Institute of Zoology, Chinese Academy of Sciences , Kunming , Yunnan Province , China .|e KIZ/CUHK Joint Laboratory of Bioresources and Molecular Research in Common Diseases , Kunming , Yunnan Province , China .
authors.forename: Minsheng
authors.initials: M
authors.lastname: Peng
authors.affiliation: b Department of endocrinology , the Second People's Hospital of Yunnan Province , Kunming , Yunnan Province , China .
authors.forename: Yongying
authors.initials: Y
authors.lastname: Liu
authors.affiliation: b Department of endocrinology , the Second People's Hospital of Yunnan Province , Kunming , Yunnan Province , China .
authors.forename: Yiping
authors.initials: Y
authors.lastname: Li
authors.affiliation: f Yunnan Institute of Digestive Disease, the First Affiliated Hospital of Kunming Medical University , Yunnan Province , China , and.
authors.forename: Huawei
authors.initials: H
authors.lastname: Wang
authors.affiliation: d State Key Laboratory of Genetic Resources and Evolution , Kunming Institute of Zoology, Chinese Academy of Sciences , Kunming , Yunnan Province , China .|g Department of Laboratory Medicine and Pathobiology , University of Toronto , Toronto , Ontario , Canada.
authors.forename: David M
authors.initials: DM
authors.lastname: Irwin
authors.affiliation: a Laboratory for Conservation and Utilization of Bio-resources , Yunnan University , Kunming , Yunnan Province , China .|c Kunming College of Life Science, University of Chinese Academy of Sciences , Kunming , Yunnan Province , China .|d State Key Laboratory of Genetic Resources and Evolution , Kunming Institute of Zoology, Chinese Academy of Sciences , Kunming , Yunnan Province , China .|e KIZ/CUHK Joint Laboratory of Bioresources and Molecular Research in Common Diseases , Kunming , Yunnan Province , China .
authors.forename: Yaping
authors.initials: Y
authors.lastname: Zhang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D019143:Evolution, Molecular; D005190:Family; D005260:Female; D054629:Genome, Mitochondrial; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics; D016366:Open Reading Frames / Q000235:genetics; D010375:Pedigree; D019683:Penetrance; D010802:Phylogeny
chemical_list: D004272:DNA, Mitochondrial
keywords: diabetes; haplogroup; mitochondrial DNA; multiple origins; private mutations