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A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies.

Human molecular genetics - 25 Mar 2021

Bocca Cinzia, Le Paih Victor, Chao de la Barca Juan Manuel, Kouassy Nzoughet Judith, Amati-Bonneau Patrizia, Blanchet Odile, Védie Benoit, Géromin Daniela, Simard Gilles, Procaccio Vincent, Bonneau Dominique, Lenaers Guy, Orssaud Christophe, Reynier Pascal

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is the most common disorder due to mitochondrial DNA mutations and complex I deficiency. It is characterized by an acute vision loss, generally in young adults, with a higher penetrance in males. How complex I dysfunction induces the peculiar LHON clinical presentation remains an unanswered question. To gain an insight into this question, we carried out a non-targeted...

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Share to Electron Transport Complex I
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33437983
DOI: 10.1093/hmg/ddab013
PMCID: PMC8033144

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