76 Biochemical study of complex i deficient patient cell lines Academic Article uri icon


  • Mutations of mitochondrial genome (mtDNA) are responsible for respiratory chain defects in numerous patients. Recently, we have developed a new strategy for the rapid identification of heteroplasmic mtDNA mutations. This method, which is based on the use of a new mismatch-specific DNA endonuclease, named ''Surveyor Nuclease'', enables the systematic screening of the entire mitochondrial genome rapidly and can detect different mutants present at as low as 3% heteroplasmy. We have used this new strategy for screening the entire mtDNA in a large population including patients with diabetes, hearing deficit and history of diabetes in maternal relatives on the one hand, and patients with neuromuscular features suggesting respiratory chain dysfunction, on the other hand. Here, we show that, in clinical practice, the search for mtDNA mutations is not highly relevant in maternally …

publication date

  • December 1, 2007