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

Valentina Barone; Chiara La Morgia; Leonardo Caporali; Claudio Fiorini; Michele Carbonelli; Laura Ludovica Gramegna; Fiorina Bartiromo; Caterina Tonon; Luca Morandi; Rocco Liguori; Aurelia Petrini; Rachele Brugnano; Rachele Del Sordo; Carla Covarelli; Manrico Morroni; Raffaele Lodi; Valerio Carelli

doi:10.3389/fgene.2022.887696

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

Front Genet. 2022 Jun 3:13:887696. doi: 10.3389/fgene.2022.887696. eCollection 2022.

Authors

Valentina Barone¹, Chiara La Morgia², Leonardo Caporali², Claudio Fiorini², Michele Carbonelli¹, Laura Ludovica Gramegna^{1

2}, Fiorina Bartiromo^{1

2}, Caterina Tonon^{1

2}, Luca Morandi^{1

2}, Rocco Liguori^{1

2}, Aurelia Petrini³, Rachele Brugnano⁴, Rachele Del Sordo⁵, Carla Covarelli⁵, Manrico Morroni⁶, Raffaele Lodi^{1

2}, Valerio Carelli^{1

2}

Affiliations

¹ Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum-University of Bologna, Bologna, Italy.
² IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
³ Nephrology Division, "S. Giovanni Battista Nuovo" Hospital, Foligno, Italy.
⁴ Department of Nephrology and Dialysis, S. Maria della Misericordia Hospital, Perugia, Italy.
⁵ Department of Medicine and Surgery, Section of Anatomic Pathology and Hystology, Medical School, University of Perugia, Perugia, Italy.
⁶ Department of Experimental and Clinical Medicine, Section of Neuroscience and Cell Biology, School of Medicine, Università Politecnica delle Marche, Ancona, Italy.

Abstract

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.

Keywords: LHON; MT-ND5; Mitochondrial nephropathy; cerebellum; m.13513G>A mutation.

Publication types

Case Reports