Frontiers in Genetics (Jun 2022)
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,
- Laura Ludovica Gramegna,
- Fiorina Bartiromo,
- Fiorina Bartiromo,
- Caterina Tonon,
- Caterina Tonon,
- Luca Morandi,
- Luca Morandi,
- Rocco Liguori,
- Rocco Liguori,
- Aurelia Petrini,
- Rachele Brugnano,
- Rachele Del Sordo,
- Carla Covarelli,
- Manrico Morroni,
- Raffaele Lodi,
- Raffaele Lodi,
- Valerio Carelli,
- Valerio Carelli
Affiliations
- Valentina Barone
- Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum-University of Bologna, Bologna, Italy
- Chiara La Morgia
- IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
- Leonardo Caporali
- IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
- Claudio Fiorini
- IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
- Michele Carbonelli
- Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum-University of Bologna, Bologna, Italy
- Laura Ludovica Gramegna
- Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum-University of Bologna, Bologna, Italy
- Laura Ludovica Gramegna
- IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
- Fiorina Bartiromo
- Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum-University of Bologna, Bologna, Italy
- Fiorina Bartiromo
- IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
- Caterina Tonon
- Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum-University of Bologna, Bologna, Italy
- Caterina Tonon
- IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
- Luca Morandi
- Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum-University of Bologna, Bologna, Italy
- Luca Morandi
- IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
- Rocco Liguori
- Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum-University of Bologna, Bologna, Italy
- Rocco Liguori
- IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
- Aurelia Petrini
- Nephrology Division, “S. Giovanni Battista Nuovo” Hospital, Foligno, Italy
- Rachele Brugnano
- Department of Nephrology and Dialysis, S. Maria della Misericordia Hospital, Perugia, Italy
- Rachele Del Sordo
- Department of Medicine and Surgery, Section of Anatomic Pathology and Hystology, Medical School, University of Perugia, Perugia, Italy
- Carla Covarelli
- Department of Medicine and Surgery, Section of Anatomic Pathology and Hystology, Medical School, University of Perugia, Perugia, Italy
- Manrico Morroni
- Department of Experimental and Clinical Medicine, Section of Neuroscience and Cell Biology, School of Medicine, Università Politecnica delle Marche, Ancona, Italy
- Raffaele Lodi
- Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum-University of Bologna, Bologna, Italy
- Raffaele Lodi
- IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
- Valerio Carelli
- Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum-University of Bologna, Bologna, Italy
- Valerio Carelli
- IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
- DOI
- https://doi.org/10.3389/fgene.2022.887696
- Journal volume & issue
-
Vol. 13
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.
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