Advances in therapeutic development for spinal muscular atrophy

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Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality. The disease originates from low levels of SMN protein due to deletion and/or mutations ofSMN1coupled with the inability ofSMN2to compensate for the loss ofSMN1. WhileSMN1andSMN2are nearly identical,SMN2predominantly generates a truncated protein (SMNΔ7) due to skipping of exon 7, the last coding exon. Several avenues for SMA therapy are being explored, including means to enhanceSMN2transcription, correctSMN2exon 7 splicing, stabilize SMN/SMNΔ7 protein, manipulate SMN-regulated pathways andSMN1gene delivery by viral vectors. This review focuses on the aspects of target discovery, validations and outcome measures for a promising therapy of SMA.

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