A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.

doi:10.1167/iovs.17-23027

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Article

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.

Investigative ophthalmology & visual science - 1 Jan 2018

Bocca Cinzia, Kouassi Nzoughet Judith, Leruez Stéphanie, Amati-Bonneau Patrizia, Ferré Marc, Kane Mariame-Selma, Veyrat-Durebex Charlotte, Chao de la Barca Juan Manuel, Chevrollier Arnaud, Homedan Chadi, Verny Christophe, Miléa Dan, Procaccio Vincent, Simard Gilles, Bonneau Dominique, Lenaers Guy, Reynier Pascal

Abstract excerpt

Purpose: Dominant optic atrophy (DOA; MIM [Mendelian Inheritance in Man] 165500), resulting in retinal ganglion cell degeneration, is mainly caused by mutations in the optic atrophy 1 (OPA1) gene, which encodes a dynamin guanosine triphosphate (GTP)ase involved in mitochondrial membrane processing. This work aimed at determining whether plasma from OPA1 pathogenic variant carriers displays a specific metabolic...

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PMID: 29340645
DOI: 10.1167/iovs.17-23027

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OPA1

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