Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.

ABSTRACT: Mutations in several mitochondrial DNA and nuclear genes involved in mitochondrial protein synthesis have recently been reported in combined respiratory chain deficiency, indicating a generalized defect in mitochondrial translation. However, the number of patients with pathogenic mutations is small, implying that nuclear defects of mitochondrial translation are either underdiagnosed or intrauterine lethal. No comprehensive studies have been reported on large cohorts of patients with combined respiratory chain deficiency addressing the role of nuclear genes affecting mitochondrial protein synthesis to date. We investigated a cohort of 52 patients with combined respiratory chain deficiency without causative mitochondrial DNA mutations, rearrangements or depletion, to determine whether a defe

SUBMITTER: Kemp JP 

PROVIDER: S-EPMC3707321 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature