Dominguez Catherine E, Cunningham David, Chandler Dawn S
Molecular, Cellular and Developmental Biology Graduate Program and The Center for RNA Biology, The Ohio State University, Columbus, OH, USA.
Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA.
Hum Genet. 2017 Sep;136(9):1173-1191. doi: 10.1007/s00439-017-1835-2. Epub 2017 Aug 29.
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.
运动神经元存活蛋白(SMN)水平低下会导致神经退行性疾病脊髓性肌萎缩症(SMA)。SMA是一种儿科疾病,其特征为脊髓运动神经元退化。SMA表现出从产前早期死亡到仅轻度肌肉无力的多种严重程度,疾病预后与患者能够表达的功能性SMN蛋白量直接相关。目前正在开发增加功能性SMN蛋白产生的疗法;然而,了解自然应激对SMN产生和功能的影响对于确保这些疗法对患者产生最大可能的效果至关重要。研究表明,无论是在mRNA水平还是蛋白质水平,SMN都受到细胞应激的高度影响。在本综述中,我们将总结突出SMN在疾病过程中的作用以及SMN对各种环境应激反应的研究。