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• W3008564638 abstract "Abstract Deregulation of mitochondrial network in terminally differentiated cells contributes to a broad spectrum of disorders. Methylmalonic acidemia (MMA) is one of the most common inherited metabolic disorders, due to deficiency of the mitochondrial methylmalonyl-coenzyme A mutase (MMUT). How MMUT deficiency triggers cell damage remains unknown, preventing the development of disease–modifying therapies. Here we combine genetic and pharmacological approaches to demonstrate that MMUT deficiency induces metabolic and mitochondrial alterations that are exacerbated by anomalies in PINK1/Parkin–mediated mitophagy, causing the accumulation of dysfunctional mitochondria that trigger epithelial stress and ultimately cell damage. Using drug–disease network perturbation modelling, we predict targetable pathways, whose modulation repairs mitochondrial dysfunctions in patient–derived cells and alleviate phenotype changes in mmut –deficient zebrafish. These results suggest a link between primary MMUT deficiency, diseased mitochondria, mitophagy dysfunction and epithelial stress, and provide potential therapeutic perspectives for MMA." @default.
• W3008564638 created "2020-03-06" @default.
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• W3008564638 date "2020-02-20" @default.
• W3008564638 modified "2023-10-18" @default.
• W3008564638 title "Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency" @default.
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• W3008564638 doi "https://doi.org/10.1038/s41467-020-14729-8" @default.
• W3008564638 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7033137" @default.
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• W3008564638 hasPublicationYear "2020" @default.
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