Establishment of treatment for spinal muscular atrophy via splicing-visualized neuroblastoma cell line

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The survival motor neuron (SMN) gene is the disease-causing gene of SMA, and it exists as two nearly identical copies, SMN1 and SMN2. SMN1 is the critical gene involved in Spinal Muscular Atrophy (SMA), as more than 95% of SMA patients have SMN1 exon 7 homozygous deletions. SMN2 almost produces alternatively spliced transcripts that lack exon 7. To search candidate drugs correcting alternative splicing of SMN2, we have to establish the system which can accurately assess SMN2 splicing. We could establish the evaluation system of SMN splicing through a fragment analysis to determine the quantity of full-length SMN2 transcripts and a shorter isoform resulting from exon 7 skipping.