Topic: SMN1

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,

Spinal muscular atrophy (SMA) is a rare neuromuscular disease caused by a homozygous deletion of the SMN1 gene. The resulting lack of survival motor neuron (SMN) protein leads to progressive muscle weakness and often respiratory insufficiency. There is unmet need for reliable biomarkers to predict disease severity, prognosis, and treatment effect in patients with SMA. Nusinersen is an antisense oligonucleotide that leads to an increased SMN protein production by the SMN2 genes and has been shown to be effective in children and adults with SMA. Previously, we have shown that neurofilament (NF)