The Association Between Mitochondrial tRNA^Glu Variants and Hearing Loss: A Case-Control Study.

ABSTRACT:

Purpose

This study aimed to examine the frequencies of mt-tRNA^Glu variants in 180 pediatric patients with non-syndromic hearing loss (NSHL) and 100 controls.

Methods

Sanger sequencing was performed to screen for mt-tRNA^Glu variants. These mitochondrial DNA (mtDNA) pathogenic mutations were further assessed using phylogenetic conservation and haplogroup analyses. We also traced the origins of the family history of probands carrying potential pathogenic mtDNA mutations. Mitochondrial functions including mtDNA content, ATP and reactive oxygen species (ROS) were examined in cells derived from patients carrying the mt-tRNA^Glu A14692G and CO1/tRNA^Ser(UCN) G7444A variants and controls.

Results

We identified four possible pathogenic

SUBMITTER: Yu X 

PROVIDER: S-EPMC10984097 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature