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Molecular mechanisms by which mitochondrial dysfunction drives neuromuscular junction degeneration in amyotrophic lateral sclerosis

Xie Yipeng, Wang Guiqian, Zhu Qiaochu, He Tengjie, Yan Zhao, Hai Huang, Zhou Jing

2025Neurobiology of Disease5 citationsDOIOpen Access PDF

Abstract

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder marked by progressive degeneration of motor neurons and early deterioration of neuromuscular junctions (NMJs). Increasing evidence indicates that mitochondrial dysfunction plays a pivotal role in driving NMJ degeneration in ALS. OBJECTIVE: This review aims to comprehensively summarize the molecular mechanisms by which mitochondrial defects contribute to NMJ instability, with a particular focus on bioenergetics, calcium homeostasis, oxidative stress, and impaired mitochondrial biogenesis. CONCLUSION: Mitochondrial dysfunction is a core driver of NMJ degeneration in ALS. Targeting mitochondrial biogenesis and metabolism-particularly through the PGC-1α pathway-represents a promising strategy to preserve NMJ integrity and slow disease progression.

Topics & Concepts

Amyotrophic lateral sclerosisNeuromuscular junctionNeuroscienceDegeneration (medical)MitochondrionMitochondrial biogenesisMedicineAxonal degenerationBiologyNeuronal degenerationNeurodegenerationNeuromuscular diseaseMitochondrial diseaseDiseaseDegenerative diseaseBiogenesisPathologyMotor neuronAmyotrophic Lateral Sclerosis ResearchMitochondrial Function and PathologyGenetic Neurodegenerative Diseases
Molecular mechanisms by which mitochondrial dysfunction drives neuromuscular junction degeneration in amyotrophic lateral sclerosis | Litcius