Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.

ABSTRACT:

Background

Mitochondrial DNA (mtDNA) diseases are rare disorders whose prevalence is estimated around 1 in 5000. Patients are usually tested only for deletions and for common mutations of mtDNA which account for 5-40% of cases, depending on the study. However, the prevalence of rare mtDNA mutations is not known.

Methods

We analysed the whole mtDNA in a cohort of 743 patients suspected of manifesting a mitochondrial disease, after excluding deletions and common mutations. Both heteroplasmic and homoplasmic variants were identified using two complementary strategies (Surveyor and MitoChip). Multiple correspondence analyses followed by hierarchical ascendant cluster process were used to explore relationships between clinical spectrum, age at onset and localisation of mutations.

SUBMITTER: Bannwarth S 

PROVIDER: S-EPMC3786640 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature