A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia

Biochem Biophys Res Commun. 1996 Mar 27;220(3):623-7. doi: 10.1006/bbrc.1996.0453.


We report a new mutation, a T-->C transition at nt.4285 in the mitochondrial tRNA(Ile) gene, in a sporadic case of progressive external ophtalmoplegia (PEO) and ragged-red fibers (RRF). The mutation, involving a highly conserved base-pair in the anticodon stem, was detected in high percentages (91%) in muscle, but not in blood. It has never been reported in literature in normal subjects and it was not found in any of 80 controls studied in our laboratory. The absence of the mutation in leukocytes in this case with pure muscle involvement confirms the importance of performing mtDNA studies in PEO patients preferentially on muscle rather than blood, which could give false negative results. Other mutations in the tRNA(Ile) gene associated with different phenotypes have been previously reported. Thus, tRNA(Ile) gene is confirmed to be another "hot spot" region for mtDNA mutations.

Publication types

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

MeSH terms

  • Adolescent
  • Animals
  • Base Sequence
  • Biopsy
  • Blotting, Southern
  • Cattle
  • Cytosine
  • DNA, Mitochondrial / chemistry
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Mitochondria, Muscle / metabolism*
  • Molecular Sequence Data
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Ophthalmoplegia, Chronic Progressive External / pathology
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • RNA, Transfer, Ile / chemistry
  • RNA, Transfer, Ile / genetics*
  • Reference Values
  • Sequence Homology, Nucleic Acid
  • Thymine


  • DNA, Mitochondrial
  • RNA, Transfer, Ile
  • Cytosine
  • Thymine

Associated data

  • GENBANK/S81656

Grant support