A rapid and sensitive PCR screening method for point mutations associated with mitochondrial encephalomyopathies

Biochem Biophys Res Commun. 1994 Apr 29;200(2):938-42. doi: 10.1006/bbrc.1994.1540.


Alterations of the mitochondrial DNA, encoding important parts of the cellular energy-generating system (oxidative phosphorylation, OXPHOS), are often associated with the occurrence of degenerative neuromuscular diseases. Especially point mutations in the mitochondrial tRNA genes, which cannot be complemented by the nuclear encoded tRNAs, are candidates for severe defects of the OXPHOS system. An A to G transition at nt 8344 in the tRNA(Lys) gene has been associated with MERRF disease whereas an A to G substitution at nt 3243 in the tRNA(Leu) gene has been linked to the MELAS syndrome. These two mtDNA alterations as well as point mutations in protein-coding genes can be detected simultaneously by an allele-specific amplification of the altered mtDNA. This assay allows the reliable detection of heteroplasmic point-mutations, even if the mutated DNA appears to a small extent of less than 1%.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • DNA / genetics
  • DNA Mutational Analysis / methods
  • DNA, Mitochondrial / genetics*
  • Evaluation Studies as Topic
  • Humans
  • MELAS Syndrome / genetics
  • MERRF Syndrome / genetics
  • Mitochondrial Encephalomyopathies / genetics*
  • Mitochondrial Encephalomyopathies / metabolism
  • Molecular Sequence Data
  • Optic Atrophies, Hereditary / genetics
  • Oxidative Phosphorylation
  • Point Mutation*
  • Polymerase Chain Reaction / methods*
  • RNA, Transfer, Leu / genetics


  • DNA, Mitochondrial
  • RNA, Transfer, Leu
  • DNA