Mitochondrial Diabetes is Associated with tRNA^Leu(UUR) A3243G and ND6 T14502C Mutations.

ABSTRACT:

Background

Mutations in mitochondrial DNA (mtDNA) are associated with type 2 diabetes mellitus (T2DM). In particular, m.A3243G is the most common T2DM-related mtDNA mutation in many families worldwide. However, the clinical features and pathophysiology of m.A3243G-induced T2DM are largely undefined.

Methods

Two pedigrees with maternally inherited T2DM were underwent clinical, molecular and biochemical assessments. The mtDNA genes were PCR amplified and sequenced. Mitochondrial adenosine triphosphate (ATP) and reactive oxygen species (ROS) were measured in polymononuclear leukocytes derived from three patients with both the m.A3243G and m.T14502C mutations, three patients with only the m.A3243G mutation and three controls without these mutations. Moreover, GJB2, GJB3 a

SUBMITTER: Ding Y 

PROVIDER: S-EPMC9172734 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature