Article
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
The Journal of clinical investigation - 15 Mar 2021
Stenton Sarah L, Sheremet Natalia L, Catarino Claudia B, Andreeva Natalia A, Assouline Zahra, Barboni Piero, Barel Ortal, Berutti Riccardo, Bychkov Igor, Caporali Leonardo, Capristo Mariantonietta, Carbonelli Michele, Cascavilla Maria L, Charbel Issa Peter, Freisinger Peter, Gerber Sylvie, Ghezzi Daniele, Graf Elisabeth, Heidler Juliana, Hempel Maja, Heon Elise, Itkis Yulya S, Javasky Elisheva, Kaplan Josseline, Kopajtich Robert, Kornblum Cornelia, Kovacs-Nagy Reka, Krylova Tatiana D, Kunz Wolfram S, La Morgia Chiara, Lamperti Costanza, Ludwig Christina, Malacarne Pedro F, Maresca Alessandra, Mayr Johannes A, Meisterknecht Jana, Nevinitsyna Tatiana A, Palombo Flavia, Pode-Shakked Ben, Shmelkova Maria S, Strom Tim M, Tagliavini Francesca, Tzadok Michal, van der Ven Amelie T, Vignal-Clermont Catherine, Wagner Matias, Zakharova Ekaterina Y, Zhorzholadze Nino V, Rozet Jean-Michel, Carelli Valerio, Tsygankova Polina G, Klopstock Thomas, Wittig Ilka, Prokisch Holger
Abstract excerpt
Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A molecular diagnosis is achieved in up to 95% of cases, the vast majority of which are accounted for by 3 mutations within mitochondrial complex I subunit-encoding genes in the mtDNA (mtLHON). Here, we resolve the enigma of LHON in the...
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