Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant.

Isolated complex I deficiency represents the most common mitochondrial respiratory chain defect involved in mitochondrial disorders. Among these, the mitochondrial DNA (mtDNA) m.13513G>A pathogenic variant in the NADH dehydrogenase 5 subunit gene (MT-ND5) has been associated with heterogenous manifestations, including phenotypic overlaps of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes, Leigh syndrome, and Leber's hereditary optic neuropathy (LHON). Interestingly, this specific mutation has been recently described in patients with adult-onset nephropathy. We, here, report the unique combination of LHON, nephropathy, sensorineural deafness, and subcortical and cerebellar atrophy in association with the m.13513G>A variant.
Competing Interests: VC acts as a consultant on boards for GenSight Biologics, Chiesi Farmaceutici, Stealth Biotherapeutics, and Pretzel Therapeutics and is PI in sponsored clinical trials by Santhera Pharmaceuticals, GenSight Biologics, Stealth Biotherapeutics. CL: consultancies for Chiesi Farmaceutici, Regulatory Pharma Net, and Thenewway srl; speaker honoraria from Santhera Pharmaceuticals, Chiesi Farmaceutici, Regulatory Pharma Net, Thenewway srl, First Class srl, and Biologix; PI/SI for clinical trials sponsored GenSight Biologics and Santhera Pharmaceuticals. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
(Copyright © 2022 Barone, La Morgia, Caporali, Fiorini, Carbonelli, Gramegna, Bartiromo, Tonon, Morandi, Liguori, Petrini, Brugnano, Del Sordo, Covarelli, Morroni, Lodi and Carelli.)