Identification of a Novel Mitochondrial tRNA Mutation in Chinese Family with Type 2 Diabetes Mellitus.

Background: Mutations in mitochondrial tRNA (mt-tRNA) could be the origin of some type 2 diabetes mellitus (T2DM) cases, but the mechanism remained largely unknown.

Aim: The aim of this study was to assess the impact of a novel mitochondrial tRNA/tRNA A5826G mutation on the development and progression of T2DM.

Methods: A four-generation Han Chinese family with maternally inherited diabetes underwent clinical, genetic and biochemical analyses.