Article
High Mitochondrial DNA Copy Number Is a Protective Factor From Vision Loss in Heteroplasmic Leber's Hereditary Optic Neuropathy (LHON).
Investigative ophthalmology & visual science - 1 Apr 2017
Bianco Angelica, Bisceglia Luigi, Russo Luciana, Palese Luigi L, D'Agruma Leonardo, Emperador Sonia, Montoya Julio, Guerriero Silvana, Petruzzella Vittoria
Abstract excerpt
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...
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