Back to Search
Start Over
High Mitochondrial DNA Copy Number Is a Protective Factor From Vision Loss in Heteroplasmic Leber's Hereditary Optic Neuropathy (LHON).
- Source :
-
Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2017 Apr 01; Vol. 58 (4), pp. 2193-2197. - Publication Year :
- 2017
-
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.<br />Methods: We identified 27 LHON subjects who possess heteroplasmic primary LHON mutations. Mitochondrial DNA (mtDNA) copy number was evaluated.<br />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.<br />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.
- Subjects :
- Antioxidants therapeutic use
Female
Genes, Mitochondrial genetics
Humans
Male
Mitochondrial Diseases diagnosis
Mitochondrial Diseases drug therapy
Optic Atrophy, Hereditary, Leber diagnosis
Optic Atrophy, Hereditary, Leber drug therapy
Pedigree
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Ubiquinone analogs & derivatives
Ubiquinone therapeutic use
Visual Acuity
Blindness prevention & control
DNA Copy Number Variations
DNA, Mitochondrial genetics
Mitochondria genetics
Mitochondrial Diseases genetics
Mutation
Optic Atrophy, Hereditary, Leber genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-5783
- Volume :
- 58
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Investigative ophthalmology & visual science
- Publication Type :
- Academic Journal
- Accession number :
- 28403426
- Full Text :
- https://doi.org/10.1167/iovs.16-20389