DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance.

ABSTRACT:

Purpose

To describe a novel DNA2 variant contributing to defects in mtDNA maintenance and mtDNA depletion syndrome (MDS), and the clinical and histological findings associated with this variation.

Methods

Herein, we describe the case of a patient who presented with hearing loss and myopathy, given the family history of similar findings in the father, was evaluated by sequencing of the deafness gene panel, mitochondrial genome, and the exome. Furthermore, tissue staining, mtDNA copy number detection, mtDNA sequencing, and long-range polymerase chain reaction tests were also conducted on the muscle biopsy specimen. In vitro experiments, including analyses of the mtDNA copy number; levels of ATP, ATPase, and reactive oxygen species (ROS); and the membrane potential, were perfor

SUBMITTER: Sun J 

PROVIDER: S-EPMC9691460 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature