A collection of 33 novel human mtDNA homoplasmic variants

Hum Mutat. 2002 Nov;20(5):409. doi: 10.1002/humu.9079.


Mitochondria are involved in cellular energy production via oxidative phosphorylation and this function may be damaged by any mutation in mitochondrial DNA (mtDNA). To identify novel mtDNA mutations, we have developed a program to systematically screen the entire mitochondrial genome in a large number of individuals with clinical and/or morphological features of mitochondrial dysfunction, but still no genetic diagnosis. The sequence-data were obtained with an automated rapid system, which gave us a series of information: in the eleven mitochondrial genomes analyzed we observed the presence of 33 differences from the revised Cambridge Reference Sequence (Andrews et al., 1999), but they were all homoplasmic in the patients' tissues analyzed (skeletal muscle and blood), suggesting that they are unlikely to be primarily pathogenic though they may be co-responsible in the determination of the disease. This work can therefore help complete the already ample mtDNA polymorphism existent database.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Amino Acid Substitution
  • Child, Preschool
  • DNA, Mitochondrial / genetics*
  • Female
  • Genetic Variation*
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Mitochondrial Encephalomyopathies / genetics*


  • DNA, Mitochondrial

Associated data

  • OMIM/511010
  • OMIM/516000
  • OMIM/516001
  • OMIM/516003
  • OMIM/516004
  • OMIM/516005
  • OMIM/516006
  • OMIM/516020
  • OMIM/516030
  • OMIM/516060
  • OMIM/561002
  • OMIM/561010
  • OMIM/590000
  • OMIM/590040
  • OMIM/590050