Article

Mitochondrial Respiratory Chain Function is crucial for Muscle Toxicity in Facioscapulohumeral Muscular Dystrophy

2025-11-26

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is driven by DUX4-induced toxicity, yet the pathomechanisms remain unclear. Here, we identify persistent transcriptional suppression of the mitochondrial respiratory chain and metabolic rewiring in FSHD muscle biopsies and myotubes. Using DUX4-inducible human myogenic cells, we show that DUX4 target gene activation is accompanied by mitochondrial function impairment an...

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Literature Corpus work: 6a155731-827b-5613-bbc7-db7ea847d183
DOI: 10.1101/2025.11.25.690559

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