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Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.

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.

journal_name

Nat Commun

journal_title

Nature communications

authors

Luciani A,Schumann A,Berquez M,Chen Z,Nieri D,Failli M,Debaix H,Festa BP,Tokonami N,Raimondi A,Cremonesi A,Carrella D,Forny P,Kölker S,Diomedi Camassei F,Diaz F,Moraes CT,Di Bernardo D,Baumgartner MR,Devuyst O

doi

10.1038/s41467-020-14729-8

subject

Has Abstract

pub_date

2020-02-20 00:00:00

pages

970

issue

1

issn

2041-1723

pii

10.1038/s41467-020-14729-8

journal_volume

11

pub_type

杂志文章

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