Late onset of type 2 diabetes is associated with mitochondrial tRNA^Trp A5514G and tRNA^Ser(AGY) C12237T mutations.

ABSTRACT:

Background

Mitochondrial dysfunctions caused by mitochondrial DNA (mtDNA) pathogenic mutations play putative roles in type 2 diabetes mellitus (T2DM) progression. But the underlying mechanism remains poorly understood.

Methods

A large Chinese family with maternally inherited diabetes and deafness (MIDD) underwent clinical, genetic, and molecular assessment. PCR and sequence analysis are carried out to detect mtDNA variants in affected family members, in addition, phylogenetic conservation analysis, haplogroup classification, and pathogenicity scoring system are performed. Moreover, the GJB2, GJB3, GJB6, and TRMU genes mutations are screened by PCR-Sanger sequencing.

Results

Six of 18 matrilineal subjects manifested different clinical phenotypes of diabetes. The averag

SUBMITTER: Yang L 

PROVIDER: S-EPMC8761459 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature