Maternally transmitted nonsyndromic hearing impairment may be associated with mitochondrial tRNA^Ala 5601C>T and tRNA^Leu(CUN) 12311T>C mutations.

ABSTRACT:

Background

Sequence alternations in mitochondrial genomes, especially in genes encoding mitochondrial tRNA (mt-tRNA), were the important contributors to nonsyndromic hearing loss (NSHL); however, the molecular mechanisms remained largely undetermined.

Methods

A maternally transmitted Chinese pedigree with NSHL underwent clinical, genetic, and biochemical assessment. PCR and direct sequence analyses were performed to detect mitochondrial DNA (mtDNA), GJB2, and SLC26A4 gene mutations from matrilineal relatives of this family. Mitochondrial functions including mitochondrial membrane potential (MMP), ATP, and ROS were evaluated in polymononuclear leukocytes (PMNs) derived from three deaf patients and three controls from this pedigree.

Results

Four of nine matrilineal rela

SUBMITTER: Yu X 

PROVIDER: S-EPMC8993639 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature