Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, is caused by mutation of the SMN1 gene. The SMN1 paralogue SMN2 produces insufficient levels of functional SMN protein to prevent the progressive loss of α motor neurons that characterizes SMA. However, recent research has shown that SMN2 splicing modifiers, which can be administered orally, increase the production of full-length SMN2, and improve motor function and longevity, in a mouse model of severe SMA.
References
Naryshkin, N. A. et al. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy. Science 10.1126/science.1250127
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Splicing modifiers alleviate spinal muscular atrophy in mice. Nat Rev Neurol 10, 485 (2014). https://doi.org/10.1038/nrneurol.2014.151
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DOI: https://doi.org/10.1038/nrneurol.2014.151
