A novel heteroplasmic tRNASer(UCN) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss

Elena Cardaioli, Paola Da Pozzo, Gian Nicola Gallus, Alessandro Malandrini, Simona Gambelli, Carmen Gaudiano, Edoardo Malfatti, Carlo Viscomi, Enza Zicari, Gianna Berti, Giovanni Serni, Maria Teresa Dotti, Antonio Federico

Research output: Contribution to journalArticlepeer-review


We sequenced all mitochondrial tRNA genes from a patient with sporadic external ophthalmoplegia (PEO) and 5% COX-negative fibers in muscle biopsy, who had no detectable large mtDNA deletions. Direct sequencing showed a heteroplasmic mutation at nucleotide 7506 in the dihydrouridine stem of the tRNASer(UCN) gene. RFLP analysis confirmed that 30% of muscle and 20% of urinary epithelium mtDNA harbored the mutation, which was absent in other tissues of the proband as well as in mtDNA of his mother and 100 patients with various encephalomyopathies. Several point mutations on mitochondrial tRNA genes have been reported in PEO patients without large-scale rearrangements of mtDNA but no point mutations have hitherto been found in the gene coding for tRNASer(UCN).

Original languageEnglish
Pages (from-to)681-683
Number of pages3
JournalNeuromuscular Disorders
Issue number9-10
Publication statusPublished - Oct 2007


  • Mitochondrial DNA
  • Progressive external ophthalmoplegia
  • tRNA

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology


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