Novel Translational Concept: Axon-to-Muscle Exosomal Signaling as an Emerging Therapeutic Target in Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) has transitioned from a uniformly fatal disease to a treatable condition, yet incomplete neuromuscular recovery underscores the limits of current SMN-restorative therapies. Emerging data implicate disrupted axon-to-muscle exosomal signaling as an important, overlooked driver of residual dysfunction. Exosomes, nanovesicles mediating bidirectional neuronal-muscular communication, carry synaptic organizers, trophic factors, and microRNAs essential for neuromuscular junction integrity. SMN deficiency alters exosomal biogenesis and cargo, leading to loss of agrin-MuSK signaling, impaired β-actin transport, and muscle atrophy. Comparative insights from amyotrophic lateral sclerosis and muscular dystrophy reveal that stem-cell-derived or engineered exosomes restore synaptic stability, enhance regeneration, and cross biological barriers safely. Thus, we speculate herein on a translational model integrating exosome-based therapies with existing genetic interventions to achieve durable, systems-level recovery in SMA. Exosomal profiling may further yield minimally invasive biomarkers for disease monitoring and treatment optimization, establishing vesicle-mediated communication as a novel therapeutic axis in neuromuscular medicine.
Authors
- Kristina Pilipović (ORCID: https://orcid.org/0000-0002-7129-1621)
- Silvestar Mežnarić (ORCID: https://orcid.org/0000-0001-5107-3670)
- Dinko Vitezić (ORCID: https://orcid.org/0000-0002-6295-6580)
- Yun Wah Lam (ORCID: https://orcid.org/0000-0001-8929-5965)
- Jasenka Mršić‐Pelčić (ORCID: https://orcid.org/0000-0002-6313-9232)
- Tamara Vuković Janković (ORCID: https://orcid.org/0000-0001-6203-2858)
- Andrej Belančić (ORCID: https://orcid.org/0000-0001-7848-6600)
- Valentino Rački (ORCID: https://orcid.org/0000-0003-3246-0506)
- Almir Fajkić (ORCID: https://orcid.org/0000-0002-3722-9701)
Institutions
- University of Sarajevo (BA)
- University of Rijeka (HR)
Publication Details
- Journal
- Biomedicines
- Published
- 2025-11-25
- DOI
- https://doi.org/10.3390/biomedicines13122876
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00