Gene therapy for Leber hereditary optic neuropathy
- Published on 07/10/2024
- Reading time: 4 min.
Marco Battista a , Valerio Carelli b,c , Leonardo Bottazzi a , Francesco Bandello a , Maria Lucia Cascavilla a & Piero Barboni a,d,*
a Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy
b Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy
c Programma di Neurogenetica, IRCCS Istituto di Scienze Neurologiche di Bologna, Bologna, Italy
d
Studio Oculistico d'Azeglio, Bologna, Italy
CONTACT Piero Barboni mailto:p.barboni@studiodazeglio.it Department of Ophthalmology, University Vita-Salute San Raffaele, Via Olgettina 60, Milan 20132, Italy
Abstract
Introduction Leber hereditary optic neuropathy (LHON) is among the most frequent inherited mitochondrial disease, causing a severe visual impairment, mostly in young-adult males. The causative mtDNA variants (the three common are m.11778 G>A/MT-ND4, m.3460 G>A/MT-ND1, and m.14484T>C/MT-ND6) by affecting complex I impair oxidative phosphorylation in retinal ganglion cells, ultimately leading to irreversible cell death and consequent functional...
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