FUNCTIONS OF SMN - THE SPINAL MUSCULAR ATROPHY PROTEIN

描述(改编自《调查者摘要》)：脊髓性肌萎缩 肌萎缩侧索硬化症(SMA)是一种常见的、毁灭性的、往往致命的运动神经元退行性变 疾病。SMA是由于SMN(存活率)水平降低或突变所致 运动神经元)蛋白质。SMN的分子表征研究进展 蛋白质导致了它的几个功能的发现，揭示了新的 细胞通路和蛋白质。调查人员发现，SMN是一个 含有几种蛋白质的复合体。建筑群的所有组件都是 新的蛋白质，他们已经表征了其中的几个。因为 它们与SMN紧密结合，复合体的其他蛋白质必须是 被认为是SMN功能的合作者或修饰者，从而发挥了 在SMA的过程和严重程度中的作用。它们也是候选的疾病基因。 治疗其他神经性疾病。SMN复合体在所有细胞中都表达，但 特别是在神经元中发现了高水平的蛋白质。它存在于两个 在细胞质和核中，它们集中在核体中，它们 称为宝石。SMN在SNRNPs生物发生中的作用 前信使核糖核酸剪接机械的块，以及在信使核糖核酸前剪接过程中 它本身。关于它的结构、功能和功能，还有很多需要了解 SMN及其复合体的作用机制。将进行研究，以 详细了解SMN的分子功能和相互作用 蛋白质和SMN复合体。从这些研究中寻找治疗SMA的方法 很可能会出现。

DESCRIPTION (Adapted from the Investigator's Abstract): Spinal Muscular Atrophy (SMA) is a common, devastating and often fatal motor neuron degenerative disease. SMA results from reduced levels of, or mutations in, the SMN (survival of motor neurons) protein. Work on the molecular characterization of the SMN protein led to the discovery of several of its functions, revealing novel cellular pathways and proteins. The investigators found that SMN is part of a complex that contains several proteins. All the components of the complex are novel proteins and they have already characterized several of them. Because they are tightly associated with SMN, the other proteins of the complex must be considered to be collaborators or modifiers of SMN function, and thus play a role in the course and severity of SMA. They also are candidate disease genes for other neuronal diseases. The SMN complex is expressed in all cells, but particularly high levels are found in neurons. It is present in both the cytoplasm and in the nucleus where it is concentrated in nuclear bodies, they termed gems. SMN functions in the biogenesis of snRNPs, the essential building blocks of the pre-mRNA splicing machinery, and in the pre-mRNA splicing process itself. Much remains to be learned about the structure, functions, and mechanism of action of SMN and the SMN complex. Studies will be carried out to understand in details the molecular functions and interactions of the SMN protein and of the SMN complex. From these studies approaches to therapy of SMA are likely to emerge.