Topic: Spinal Muscular Atrophy (SMA)

Spinal Muscular Atrophy (SMA) is a genetic disorder resulting from the deletion or mutation of the SMN1 gene (Survival Motor Neuron 1). The reduction in SMN protein levels leads to the degeneration of motor neurons in the spinal cord, giving rise to typical clinical manifestations of the disease, such as muscular weakness and atrophy. At the cellular level, SMN is part of a macromolecular machinery referred to the SMN complex, comprising various proteins, including Gemin3. Among other functions, Gemin3 regulates the intracellular survival signaling pathway NF-κB. In the context of SMA disease,