Novel m.4268T>C mutation in the mitochondrial tRNA^Ile gene is associated with hearing loss in two Chinese families.

ABSTRACT:

Background

Herein, we report the genetic, clinical, molecular and biochemical features of two Han Chinese pedigrees with suggested maternally transmitted non-syndromic hearing loss.

Aim

To investigate the pathophysiology of hearing loss associated with mitochondrial tRNA mutations.

Methods

Sixteen subjects from two Chinese families with hearing loss underwent clinical, genetic, molecular, and biochemical evaluations. Biochemical characterizations included the measurements of tRNA levels using lymphoblastoid cell lines derived from five affected matrilineal relatives of these families and three control subjects.

Results

Three of the 16 matrilineal relatives in these families exhibited a variable seriousness and age-at-onset (8 years) of deafness. Analysis of mtD

SUBMITTER: Zhao LJ 

PROVIDER: S-EPMC8727281 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature