Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.

ABSTRACT:

Background

Detection of mutations in the mitochondrial DNA (mtDNA) is usually limited to common mutations and the transfer RNA genes. However, mutations in other mtDNA regions can be an important cause of oxidative phosphorylation (OXPHOS) disease as well.

Objective

To investigate whether regions in the mtDNA are preferentially mutated in patients with OXPHOS disease.

Methods

Screening of the mtDNA for heteroplasmic mutations was performed by denaturing high-performance liquid chromatography analysis of 116 patients with OXPHOS disease but without the common mtDNA mutations.

Results

An mtDNA sequence variant was detected in 15 patients, 5 of which were present in the ND5 gene. One sequence variant was new and three were known, one of which was found twice. The

SUBMITTER: Blok MJ 

PROVIDER: S-EPMC2598042 | biostudies-literature | 2007 Apr

REPOSITORIES: biostudies-literature