ArticleJournal of translational medicine2026
SMN deficiency contributes to osteoporosis in spinal muscular atrophy by impairing Snap23 meditated muscle-derived extracellular vesicle secretion.
Article in Journal of translational medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundSpinal muscular atrophy (SMA), caused by mutations in survival motor neuron 1 (SMN1), presents with severe muscle atrophy and prevalent osteoporosis. Transcriptomic profiling of patient muscle biopsies revealed enrichment of extracellular vesicle genes, yet the contribution of SMA-EVs to SMA-associated bone loss and their link to SMN deficiency remain undefined.
methodsClinical CT/MRI images of SMA and control subjects were acquired to quantify osteoporosis and muscle atrophy. SMA model mice (Smn1
resultsSMA patients and mice exhibited a significantly diminished capacity of skeletal muscle to secrete EVs, which were readily internalized by BMSCs and BMMs, dose-dependently promote osteogenic differentiation and suppress osteoclast formation. Adequate-dose SMA-EVs matched CON-EVs efficacy, and SMA-EVs supplementation effectively rescued the osteoporotic phenotype in SMA. Transcriptomics indicated impaired SNARE complex-mediated vesicle secretion pathway. We further demonstrated that deficiency of SMN protein drives downregulation of its downstream key SNARE component, SNAP23, thereby impairing the efficiency of SMA-EV secretion.
conclusionOur work elucidates a novel disease-specific mechanism for SMA osteoporosis-dysfunction of the SMN-SNAP23-EVs axis-and highlights the therapeutic potential of replenishing SMA-EVs or targeting this axis, offering a promising strategy to improve skeletal health in SMA.
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