1. SMN1 and SMN2 contribute to spinal muscular atrophy (SMA).
SMN1 and SMN2 contribute to spinal muscular atrophy (SMA). In healthy individuals, the survival motor neuron 1 (SMN1) gene produces 100% full length (FL) SMN protein while the SMN2 gene produces ∼10% FL SMN and ∼90% of a non-functional product that lacks exon 7 (SMNΔ7) due to aberrant alternative splicing. In SMA patients, the SMN1 gene is lost due to mutations or deletions. SMN2 remains and the small amount of FL SMN is sufficient for survival. The number of SMN2 copies correlates with disease severity, with a lower copy number being linked to more severe types of SMA.
Melissa Bowerman et al. Dis. Model. Mech. 2017;10:
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