Nusinersen is a prescription medication used to treat adult and paediatric spinal muscular atrophy (SMA) by improving peripheral muscle function.SMA is caused by a mutation in a gene called SMN1, which encodes for a protein important for motor neuron survival (survival motor neuron or SMN). Although a nearly identical gene (SMN2) serves as a backup to SMN1, it produces a shorter, less stable protein that does not fully compensate for the loss of the full-length protein normally produced by the SMN1 gene. In contrast, Nusinersen is an antisense oligonucleotide agent that modifies the pre-messenger RNA splicing of the SMN2 gene, thereby facilitating increased production of full-length SMN proteins[1-2].
Nusinersen can be used to treat adult and paediatric spinal muscular atrophy (SMA) and is also able to improve respiratory function and slow the decline in lung function in paediatric SMA[1].
[1] MICHELLE A FARRAR; Matthew C K. Treating adults with spinal muscular atrophy with nusinersen.[J]. Journal of Neurology, Neurosurgery, and Psychiatry, 2020. DOI:10.1136/jnnp-2020-324036.
[2] ARCHANA CHACKO. Effect of nusinersen on respiratory function in paediatric spinal muscular atrophy types 1-3.[J]. Thorax, 2022. DOI:10.1136/thoraxjnl-2020-216564.
