AUTHOR=Peverelli Lorenzo , Catania Alessia , Marchet Silvia , Ciasca Paola , Cammarata Gabriella , Melzi Lisa , Bellino Antonella , Fancellu Roberto , Lamantea Eleonora , Capristo Mariantonietta , Caporali Leonardo , La Morgia Chiara , Carelli Valerio , Ghezzi Daniele , Bianchi Marzoli Stefania , Lamperti Costanza 

TITLE=Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants

JOURNAL=Frontiers in Neurology

VOLUME=Volume 12 - 2021

YEAR=2021

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2021.657317

DOI=10.3389/fneur.2021.657317

ISSN=1664-2295

ABSTRACT=Leber’s hereditary optic neuropathy (LHON) is due to missense point mutations affecting mitochondrial DNA (mtDNA); 90% of cases harbor the m.3460G>A, m.11778G>A, and m.14484T>C primary mutations. Here we report and discuss 5 families with patients affected by LHON, associated with five novel mtDNA variants leading to mild oxidative phosphorylation abnormalities. Remarkably, these mtDNA variants, even without strong evidence of a deleterious effect on cell respiration, are associated with symptomatic LHON. This study remarks that in case of strong clinical suspicion of LHON, it is mandatory to analyze the whole mtDNA sequence, because new rare mtDNA pathogenic variants causing LHON are increasingly identified.