Clinical and molecular features of two diabetes families carrying mitochondrial ND1 T3394C mutation.

Background: Mutations in mitochondrial DNA (mtDNA) are found to be associated with type 2 diabetes mellitus (T2DM). However, the molecular pathogenesis of these mutations in T2DM is still poorly understood.

Methods: In this study, we report here the molecular features of two Han Chinese families with maternally transmitted T2DM.