Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy

Mitochondrion. 2008 Mar;8(2):136-45. doi: 10.1016/j.mito.2007.10.008. Epub 2007 Nov 6.


Mutations of mitochondrial genome are responsible for respiratory chain defects in numerous patients. We have used a strategy, based on the use of a mismatch-specific DNA endonuclease named " Surveyor Nuclease", for screening the entire mtDNA in a group of 50 patients with neuromuscular features, suggesting a respiratory chain dysfunction. We identified mtDNA mutations in 20% of patients (10/50). Among the identified mutations, four are not found in any mitochondrial database and have not been reported previously. We also confirm that mtDNA polymorphisms are frequently found in a heteroplasmic state (15 different polymorphisms were identified among which five were novel).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child, Preschool
  • DNA, Mitochondrial / genetics*
  • Endonucleases*
  • Female
  • Genetic Testing / methods*
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Mitochondrial Diseases / genetics
  • Neuromuscular Diseases / genetics*
  • Pedigree


  • DNA, Mitochondrial
  • Endonucleases
  • CEL I nuclease