1. Academic Validation
  2. Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy

Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy

  • Am J Hum Genet. 2000 Jun;66(6):1900-4. doi: 10.1086/302927.
O Musumeci 1 A L Andreu S Shanske N Bresolin G P Comi R Rothstein E A Schon S DiMauro
Affiliations

Affiliation

  • 1 H. Houston Merritt Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University College of Physicians and Surgeons, New York, USA.
Abstract

We report an unusual molecular defect in the mitochondrially encoded ND1 subunit of NADH ubiquinone oxidoreductase (complex I) in a patient with mitochondrial myopathy and isolated complex I deficiency. The mutation is an inversion of seven nucleotides within the ND1 gene, which maintains the reading frame. The inversion, which alters three highly conserved Amino acids in the polypeptide, was heteroplasmic in the patient's muscle but was not detectable in blood. This is the first report of a pathogenic inversion mutation in human mtDNA.

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