Journal
MOLECULES AND CELLS
Volume 33, Issue 3, Pages 223-228Publisher
KOREAN SOC MOLECULAR & CELLULAR BIOLOGY
DOI: 10.1007/s10059-012-0005-6
Keywords
anti-sense oligonucleotide; SMA; SMN; splicing; trans-splicing
Categories
Funding
- Priority Academic Program Development of Jiangsu Higher Education Institution (PAPD), P. R. China
- National Research Foundation (NRF) [2011-0000188, 2011-0016757]
- Ministry of Education, Science, and Technology (MEST), Korea
- Ministry for Health, Welfare, and Family Affairs [A100733-1102-0000100]
- Gwangju Institute of Science and Technology (GIST)
- National Research Foundation of Korea [2011-0016757] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
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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.
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