Abstract
Low levels of the survival of motor neuron (SMN) protein cause the neurodegenerative disease spinal muscular atrophy (SMA). SMA is a pediatric disease characterized by spinal motor neuron degeneration. SMA exhibits several levels of severity ranging from early antenatal fatality to only mild muscular weakness, and disease prognosis is related directly to the amount of functional SMN protein that a patient is able to express. Current therapies are being developed to increase the production of functional SMN protein; however, understanding the effect that natural stresses have on the production and function of SMN is of critical importance to ensuring that these therapies will have the greatest possible effect for patients. Research has shown that SMN, both on the mRNA and protein level, is highly affected by cellular stress. In this review we will summarize the research that highlights the roles of SMN in the disease process and the response of SMN to various environmental stresses.
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References
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Acknowledgements
Work in the authors’ lab has been funded by National Institute of Neurological Diseases and Stroke (R21-NS084187 to DSC and F31-NS079032 to CED). The authors would like to thank Ashlee Smith for topic discussions, critical reading of the manuscript draft and help with reference management during the writing process.
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Dominguez, C.E., Cunningham, D. & Chandler, D.S. SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities. Hum Genet 136, 1173–1191 (2017). https://doi.org/10.1007/s00439-017-1835-2
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DOI: https://doi.org/10.1007/s00439-017-1835-2