Complete mtDNA genomes reveal similar penetrances of maternally inherited type 2 diabetes in two Chinese families. (3rd May 2016)

• Record Type: Journal Article
• Authors: Yang, Ying; Zhou, Taicheng; Peng, Minsheng; Liu, Yongying; Li, Yiping; Wang, Huawei; Irwin, David M.; Zhang, Yaping
• Is Part Of: Mitochondrial DNA. Volume 27:Number 3(2016)
• Page Start: 2040
• Page End: 2044
• Publication Date: 2016-05-03
• Subjects: diabetes -- haplogroup -- mitochondrial DNA -- multiple origins -- private mutations
• DOI: 10.3109/19401736.2014.982552
• Languages: English
• ISSNs: 2380-2359

Abstract

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.