Revisiting the role of mitochondria in spinal muscular atrophy

Abstract Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease of variable clinical severity that caused by mutations in the survival 1 ( SMN1 ) gene. Despite its name, SMN a ubiquitous protein functions within and outside nervous system has multiple cellular roles transcription, translation, proteostatic mechanisms. Encouragingly, several SMN-directed therapies have recently reached clinic, albeit this highlighted increasing need to develop combinatorial for SMA achieve full efficacy. As subcellular site dysfunction SMA, mitochondria represents relevant target therapy. Accordingly, we will discuss our current understanding mitochondrial highlighting mitochondrial-based pathways offer further mechanistic insights into involvement SMA. This may ultimately facilitate translational development targeted Due overlaps, such strategies also benefit other diseases related neurodegenerative disorders.