Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

ABSTRACT:

Importance

Mitochondrial disorders have emerged as a common cause of inherited disease, but their diagnosis remains challenging. Multiple respiratory chain complex defects are particularly difficult to diagnose at the molecular level because of the massive number of nuclear genes potentially involved in intramitochondrial protein synthesis, with many not yet linked to human disease.

Objective

To determine the molecular basis of multiple respiratory chain complex deficiencies.

Design, setting, and participants

We studied 53 patients referred to 2 national centers in the United Kingdom and Germany between 2005 and 2012. All had biochemical evidence of multiple respiratory chain complex defects but no primary pathogenic mitochondrial DNA mutation. Whole-exome sequencing

SUBMITTER: Taylor RW 

PROVIDER: S-EPMC6558267 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature