Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene

J Neurol Sci. 2011 Apr 15;303(1-2):142-5. doi: 10.1016/j.jns.2010.12.020. Epub 2011 Jan 22.


We sequenced the mitochondrial genome from a patient with progressive mitochondrial myopathy associated with deafness, sporadic seizures, and histological and biochemical features of mitochondrial respiratory chain dysfunction. Direct sequencing showed a heteroplasmic mutation at nucleotide 12262 in the tRNASer(AGY) gene. RFLP analysis confirmed that 63% of muscle mtDNA harboured the mutation, while it was absent in all the other tissues. The mutation is predicted to influence the functional behaviour of the aminoacyl acceptor stem of the tRNA. Several point mutations on mitochondrial tRNA genes have been reported in patients affected by encephalomyopathies, but between them only four were reported for tRNASer(AGY).

Publication types

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

MeSH terms

  • Base Sequence
  • Brain / pathology
  • DNA / genetics
  • Deafness / genetics*
  • Deafness / pathology
  • Electroencephalography
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / pathology
  • Molecular Biology
  • Molecular Sequence Data
  • Mutation / physiology*
  • Polymorphism, Restriction Fragment Length
  • RNA, Transfer, Ser / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Seizures / genetics*
  • Seizures / pathology


  • RNA, Transfer, Ser
  • DNA