Combinatory Treatment to Alleviate Cellular Stress and Improve Skeletal Muscle Phenotype in Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by SMN1 gene mutations, leading to motor neuron loss and skeletal muscle dysfunction. The cell-autonomous role of SMN (Survival of motor neuron) in muscle is essential for maintaining integrity and function.¹ Human induced pluripotent stem cell (iPSC) models offer a patient-specific platform for rare disease drug discovery, enabling mechanistic studies and personalized therapy screening. This study leverages iPSC-derived models to explore the role of SMN in skeletal muscle and identify targeted SMA therapies.