Recent insights into neuromuscular junction biology in Duchenne muscular dystrophy: Impacts, challenges, and opportunities.

Duchenne muscular dystrophy (DMD) is the most common and relentless form of muscular dystrophy. The pleiotropic effects of dystrophin deficiency include remarkable impacts on neuromuscular junction (NMJ) structure and function. Some of these alterations contribute to the severe muscle wasting and weakness that distinguish DMD, while others attempt to compensate for them. Experimental approaches that correct NMJ biology in pre-clinical models of DMD attenuate disease progression and improve functional outcomes, which suggests that targeting the NMJ may be an effective therapeutic strategy for DMD patients. The objectives of this review are to 1) survey the distinctions in NMJ structure, function, and gene expression in the dystrophic context as compared to the healthy condition, and 2) summarize the efforts, opportunities and challenges to correct NMJ biology in DMD. This information will expand our basic understanding of neuromuscular biology and may be useful for designing novel NMJ-targeted drug or behavioural strategies to mitigate the dystrophic pathology and other disorders of the neuromuscular system.