| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Outline of Final Research Achievements |
Spinal muscular atrophy (SMA), a genetic neuromuscular disorder, leads to motor neuron degeneration. SMA is caused by the reduction of the survival motor neuron (SMN)protein resulting from the homozygous deletion or mutation of the survival motor neuron 1(SMN1) gene and abnormal splicing of the SMN2 gene that is a highly homologous copy of SMN1. SMN2 is unable to compensate for defects in SMN1. This study was focused on the SMN2 pre-mRNA regulation of SMN protein in SMA patient-derived fibroblasts. By the overexpression of the exogenous GFP-SMN, endogenous SMN protein and total SMN2 mRNA expression were increased in SMA fibroblasts. These results suggest that SMN protein expression level have effects on the endogenous SMN2 gene transcription.
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