High mitochondrial DNA copy number is a protective factor from vision loss in heteroplasmic leber’s hereditary optic neuropathy (LHON)

Angelica Bianco, Luigi Bisceglia, Luciana Russo, Luigi L. Palese, Leonardo D’Agruma, Sonia Emperador, Julio Montoya, Silvana Guerriero, Vittoria Petruzzella

Research output: Contribution to journalArticlepeer-review

Abstract

PURPOSE. Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease that typically causes bilateral blindness in young men. It is characterized by as yet undisclosed genetic and environmental factors affecting the incomplete penetrance. METHODS. We identified 27 LHON subjects who possess heteroplasmic primary LHON mutations. Mitochondrial DNA (mtDNA) copy number was evaluated. RESULTS. The presence of centrocecal scotoma, an edematous, hyperemic optic nerve head, and vascular tortuosity, as well as telangiectasia was recognized in affected subjects. We found higher cellular mtDNA content in peripheral blood cells of unaffected heteroplasmic mutation carriers with respect to the affected. CONCLUSIONS. The increase of cellular mtDNA content prevents complete loss of vision despite the presence of a heteroplasmic state of LHON primary mutation, suggesting that it is a key factor responsible for penetrance of LHON.

Original languageEnglish
Pages (from-to)2193-2197
Number of pages5
JournalInvestigative Ophthalmology and Visual Science
Volume58
Issue number4
DOIs
Publication statusPublished - Apr 1 2017

Keywords

  • Heteroplasmy
  • LHON
  • Mitochondrial DNA
  • mtDNA copy number

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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