title: Targeting RNA-splicing for SMA treatment.
abstract: The central dogma of DNA-RNA-protein was established more than 40 years ago. However, important biological processes have been identified since the central dogma was developed. For example, methylation is important in the regulation of transcription. In contrast, proteins, are more complex due to modifications such as phosphorylation, glycosylation, ubiquitination, or cleavage. RNA is the mediator between DNA and protein, but it can also be modulated at several levels. Among the most profound discoveries of RNA regulation is RNA splicing. It has been estimated that 80% of pre-mRNA undergo alternative splicing, which exponentially increases biological information flow in cellular processes. However, an increased number of regulated steps inevitably accompanies an increased number of errors. Abnormal splicing is often found in cells, resulting in protein dysfunction that causes disease. Splicing of the survival motor neuron (SMN) gene has been extensively studied during the last two decades. Accumulating knowledge on SMN splicing has led to speculation and search for spinal muscular atrophy (SMA) treatment by stimulating the inclusion of exon 7 into SMN mRNA. This mini-review summaries the latest progress on SMN splicing research as a potential treatment for SMA disease.
authors.affiliation: Department of Neuroregeneration, Nantong University, JiangSu, P. R. China.
authors.forename: Jianhua
authors.initials: J
authors.lastname: Zhou
authors.forename: Xuexiu
authors.initials: X
authors.lastname: Zheng
authors.forename: Haihong
authors.initials: H
authors.lastname: Shen
mesh_terms: D017398:Alternative Splicing / Q000187:drug effects*; D000818:Animals; D006801:Humans; D058990:Molecular Targeted Therapy; D009134:Muscular Atrophy, Spinal / Q000188:drug therapy*; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics
chemical_list: C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein