Clinical and audiological follow up of a family with the 8363G > A mutation in the mitochondrial DNA

Roberto DiFabio, Filippo M. Santorelli, Giuseppe Nola, Federica Cricchi, Roberto Masi, Angelo Ingrosso, Fabiana Fattori, Rosalba Carrozzo, Nicola Vanacore, Francesco Pierelli, Giovanni Ralli, Carlo Casali

Research output: Contribution to journalArticlepeer-review


Hearing loss is relatively common in mtDNA-related disorders. While auditory function has been assessed fully in the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, few studies have investigated the degree of progressive hearing deficit in individuals bearing other mtDNA mutations. We performed a 4-year clinical and audiological follow up in a family carrying the 8363G > A mutation in the mitochondrial transfer ribonucleic acid lysine (tRNALys) gene who displayed a progressive neuromuscular disease. In addition to pure tone audiometry, we considered distortion products of otoacoustic emissions, a sensitive indicator of cochlear dysfunction, as well as brainstem auditory evoked responses. A generalized increase in the auditory threshold at follow up, indicating a cochlear impairment in three cases, was noted. Distortion products of otoacoustic emissions may reveal sub-clinical cochlear dysfunction, even in oligosymptomatic patients. A complete and periodical assessment of the hearing function should be encouraged in asymptomatic relatives of patients carrying the tRNALys 8363G > A mutation.

Original languageEnglish
Pages (from-to)291-296
Number of pages6
JournalNeuromuscular Disorders
Issue number4
Publication statusPublished - Apr 2009


  • 8363G > A mutation
  • Follow up
  • Hearing loss
  • Mitochondrial DNA

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology


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