Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

doi:10.1212/WNL.0000000000003491

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Article

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Neurology - 10 Jan 2017

Liao Chunyan, Ashley Neil, Diot Alan, Morten Karl, Phadwal Kanchan, Williams Andrew, Fearnley Ian, Rosser Lyndon, Lowndes Jo, Fratter Carl, Ferguson David J P, Vay Laura, Quaghebeur Gerardine, Moroni Isabella, Bianchi Stefania, Lamperti Costanza, Downes Susan M, Sitarz Kamil S, Flannery Padraig J, Carver Janet, Dombi Eszter, East Daniel, Laura Matilde, Reilly Mary M, Mortiboys Heather, Prevo Remko, Campanella Michelangelo, Daniels Matthew J, Zeviani Massimo, Yu-Wai-Man Patrick, Simon Anna Katharina, Votruba Marcela, Poulton Joanna

Abstract excerpt

OBJECTIVE: To investigate mitophagy in 5 patients with severe dominantly inherited optic atrophy (DOA), caused by depletion of OPA1 (a protein that is essential for mitochondrial fusion), compared with healthy controls. METHODS: Patients with severe DOA (DOA plus) had peripheral neuropathy, cognitive regression, and epilepsy in addition to loss of vision. We quantified mitophagy in dermal fibroblasts, using 2...

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Identifiers

PMID: 27974645
DOI: 10.1212/WNL.0000000000003491
PMCID: PMC5224718

Genes

OPA1
ATG7

Provenance

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