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Current research on SMN protein and treatment strategies for spinal muscular atrophy
| Content Provider | Semantic Scholar |
|---|---|
| Author | Humphrey, Emma L. Fuller, Heidi R. Morris, Glenn E. |
| Copyright Year | 2012 |
| Abstract | The 7th UK SMA researchers meeting at Lake Vyrnwy Hotel, Oswestry UK in October 2010, was focussed on two main aspects of current SMA research: (1) to understand the normal functions of SMN protein (Fig. 1) and the mechanism of what goes seriously wrong when SMN levels are reduced to less than 10–15% of normal; and (2) to generate novel treatment options for current SMA patients and preventative options for future sufferers. Possible targets for treatment are shown in Fig. 1. Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disease displaying a wide range of severity and characterised by loss of function and degeneration of lower motor neurons in the anterior horn of the spinal cord. It is caused by reduced levels of the small ubiquitous survival of motor neuron (SMN) protein, which is encoded by two genes, SMN1 and SMN2 [1]. Most of the mRNA transcribed from the SMN2 gene is alternatively spliced to omit exon 7 and any protein translated from such “delta7” mRNA is unstable and rapidly degraded [1–3]. In SMA patients, the SMN1 gene is deleted and only a small amount of functional SMN is produced from the SMN2 gene, with the more severe phenotypes having the least SMN [4,5]. In theory, therefore, only small increases in functional SMN are needed to produce a less severe SMA phenotype. This means that a concentrated effort on therapies that might increase the SMN protein levels in patients could help to protect the motor neurons [6]. Additional approaches without increasing SMN include modifying factors or stabilisation of neuromuscular junctions [7]. Shortly after the SMN1 gene was identified as the affected gene in SMA, the SMN protein was shown to have an essential role in the assembly of U snRNPs in the cytoplasm and their transport to the nucleus, where they are further modified for participation in RNA splicing [8]. It |
| Starting Page | 193 |
| Ending Page | 197 |
| Page Count | 5 |
| File Format | PDF HTM / HTML |
| DOI | 10.1016/j.nmd.2011.06.002 |
| Alternate Webpage(s) | https://api.elsevier.com/content/article/pii/S0960896611001702 |
| Alternate Webpage(s) | https://www.sciencedirect.com/science/article/pii/S0960896611001702?dgcid=api_sd_search-api-endpoint |
| PubMed reference number | 21820901 |
| Alternate Webpage(s) | https://doi.org/10.1016/j.nmd.2011.06.002 |
| Journal | Medline |
| Volume Number | 22 |
| Journal | Neuromuscular Disorders |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
