Genetic basis of mitochondrial optic neuropathies

A. Maresca, L. Caporali, D. Strobbe, C. Zanna, D. Malavolta, C. La Morgia, M. L. Valentino, V. Carelli

Research output: Contribution to journalArticlepeer-review


Over two decades have elapsed since the first mtDNA point mutation was associated with Leber’s hereditary optic neuropathy (LHON) in 1988. We have subsequently witnessed a substantial understanding of the molecular basis of hereditary optic neuropathies, as well as of their clinical features and pathogenic mechanisms. It became clear that the large majority of genetic optic neuropathies have a primary or an indirect involvement of mitochondrial functions, justifying the definition of “mitochondrial optic neuropathies”. Despite this progress many unsolved features remain to be understood, such as incomplete penetrance and variable clinical expressivity in LHON and dominant optic atrophy (DOA), gender prevalence in LHON, and complex gene/environment interactions in both LHON and DOA. The most recent advancement in our understanding of the molecular basis of mitochondrial optic neuropathies is the topic of this review. In particular, we analyze the role that mitochondrial biogenesis may play in the compensatory mechanisms that underlie incomplete penetrance and clinical expressivity, a scenario relevant for the possible design of future therapeutic approaches.

Original languageEnglish
Pages (from-to)985-992
Number of pages8
JournalCurrent Molecular Medicine
Issue number8
Publication statusPublished - Mar 1 2014


  • DOA
  • Environmental triggers
  • Genetic modifiers
  • LHON
  • Mitochondrial biogenesis
  • Mitochondrial DNA
  • OPA1
  • Optic neuropathies

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Molecular Medicine


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