A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease

Biochem Biophys Res Commun. 1998 Jun 9;247(1):112-5. doi: 10.1006/bbrc.1998.8729.


We have identified a novel mitochondrial (mt) DNA mutation in the tRNA(Phe)-gene in a patient with an isolated mitochondrial myopathy. This T to C transition at position 618 disrupts a strictly conserved base pair within the anticodon stem of tRNA(Phe). Computer analysis showed that the affected base pair is essential for anticodon stem formation of tRNA(Phe). The mutant mtDNA was heteroplasmic in skeletal muscle (95% mutant) and peripheral blood cells (20% mutant) from the patient but was undetectable in blood cells from his healthy sister. The patient presented with ragged red fibers and reduced activities of complex I and complex III in skeletal muscle. The T618C mutation described here is the second found in this region. Both mutations affect the same base pair of the tRNA(Phe) anticodon stem substantiating the pathogenic nature of both mutations.

Publication types

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

MeSH terms

  • Adult
  • Animals
  • Anticodon / antagonists & inhibitors*
  • Anticodon / metabolism
  • Base Sequence
  • Cattle
  • DNA, Mitochondrial / genetics*
  • Electron Transport / genetics
  • Humans
  • Male
  • Mice
  • Mitochondrial Myopathies / enzymology
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / pathology
  • Molecular Sequence Data
  • Muscle, Skeletal / enzymology
  • Point Mutation*
  • RNA, Transfer, Phe / genetics*
  • RNA, Transfer, Phe / metabolism
  • Rats


  • Anticodon
  • DNA, Mitochondrial
  • RNA, Transfer, Phe