Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
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DOI：
10.1038/nrn2670
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发表时间：
2009-08
影响因子：
34.7
通讯作者：
Beattie, Christine E.
中科院分区：
文献类型：
--
作者：
Burghes, Arthur H. M.;Beattie, Christine E.
许多神经遗传性疾病是由广泛表达的基因突变引起的。脊髓性肌萎缩症是一种这样的疾病，是由运动神经元生存基因1（SMN 1）的缺失或突变引起的，导致SMN蛋白水平降低和运动神经元的选择性功能障碍。SMN与伴侣蛋白协作，在小核核糖核蛋白（snRNP）的组装中发挥作用，这对前体mRNA剪接很重要。也有人认为SMN可能在其他RNP复合物的组装中起作用。已经提出了两种假说来解释引起SMA的分子功能障碍及其对特定神经元组的特异性。第一种假设认为，在snRNP组装中SMN的已知功能的丧失导致特定基因（或多个基因）的剪接改变。第二种假设提出，SMN对于神经元中mRNA的转运至关重要，并且该功能的破坏导致SMA。
Many neurogenetic disorders are caused by the mutation of ubiquitously expressed genes. Spinal muscular atrophy is one such disorder and is caused by loss or mutation of the survival motor neuron 1 gene (SMN1), leading to reduced SMN protein levels and a selective dysfunction of motor neurons. SMN, in collaboration with partner proteins, functions in the assembly of small nuclear ribonucleoproteins (snRNPs), which are important for pre-mRNA splicing. It has also been suggested that SMN might function in the assembly of other RNP complexes. Two hypotheses have been proposed to explain the molecular dysfunction that gives rise to SMA and its specificity to a particular group of neurons. The first hypothesis states that the loss of SMN’s well-known function in snRNP assembly causes an alteration in the splicing of a specific gene (or genes). A second hypothesis proposes that SMN is critical for the transport of mRNA in neurons and disruption of this function results in SMA.
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