Maternally Inherited Diabetes Mellitus Associated with a Novel m.15897G>A Mutation in Mitochondrial tRNA^Thr Gene.

ABSTRACT: We report here the clinical, genetic, and molecular characteristics of type 2 diabetes in a Chinese family. There are differences in the severity and age of onset in diabetes among these families. By molecular analysis of the complete mitochondrial genome in this family, we identified the homoplasmic m.15897G>A mutation underwent sequence analysis of whole mitochondrial DNA genome, which localized at conventional position ten of tRNA^Thr, and distinct sets of mtDNA polymorphisms belonging to haplogroup D4b1. This mutation has been implicated to be important for tRNA identity and stability. Using cybrid cell models, the decreased efficiency of mitochondrial tRNA^Thr levels caused by the m.15897G>A mutation results in respiratory deficiency, protein synthesis and assembly

SUBMITTER: Li K 

PROVIDER: S-EPMC7011485 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature