OPA1 in multiple mitochondrial DNA deletion disorders

Abstract

Disorders of mitochondrial DNA (mtDNA) maintenance
are a major cause of sporadic and inherited
neurologic disease,1 but the underlying nuclear gene
defects have yet to be identified in many patients.
Following the recent description of multiple mtDNA
deletions in seven families with mutations in
OPA1,2-4 we determined the frequency of OPA1 mutations
in adult patients with multiple mtDNA deletions
who did not have mutations in POLG1,
POLG2, SLC25A4, and PEO1.

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