Neurogenetic and Muscular Disorders Research

Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease caused by mutations in the SMN1 gene, which encodes a protein essential for the survival and function of motor neurons — the cells that transmit movement signals from the spinal cord to muscle. Without sufficient SMN protein, motor neurons degenerate, leading to progressive muscle weakness that, in its most severe forms, is fatal in early childhood. Researchers working in this area study how a second, related gene called SMN2 can be coaxed — through antisense oligonucleotides like nusinersen or through gene replacement therapy — to compensate for the lost SMN1 function, and treatments developed from this work have already changed the clinical outlook for many patients. Open questions center on why restoring SMN protein does not fully rescue neuromuscular junction integrity in all patients, what determines the window of therapeutic opportunity in the nervous system, and whether combining molecular strategies can push outcomes further.

Works

44,124

Total citations

461,602

Keywords

Spinal Muscular AtrophySMN1NusinersenGene Replacement TherapyMotor NeuronSMN2