【摘 要】
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Spinal muscular atrophy (SMA) is a neuromuscular disease caused by the homozygous mutation or deletion of the survival motor neuron 1 (SMN1) gene. A second copy, SMN2, is similar to SMN1, but produces only ～10％ SMN protein because of a single-point mutati
【机 构】
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Center of Emphasis in Neurosciences,Department of Molecular and Translational Medicine,Paul L.Foster
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Spinal muscular atrophy (SMA) is a neuromuscular disease caused by the homozygous mutation or deletion of the survival motor neuron 1 (SMN1) gene. A second copy, SMN2, is similar to SMN1, but produces only ～10％ SMN protein because of a single-point mutation (C > T) in coding exon 7 causing a splicing defect which leads to the exclusion of exon 7, resulting in a majority (～90％) of transcripts lacking exon 7 that translate into mutant SMN (SMNΔ7) protein. SMA is caused by chronic low levels of SMN and is characterized by the degeneration of the spinal cord motor neurons leading to symmetrical skeletal muscle atrophy, respiratory failure, and death (Ahmad et al., 2012).
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