Animal models of spinal muscular atrophy
Animal models of spinal muscular atrophy
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DOI：
10.1093/hmg/9.16.2451
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发表时间：
2000-10-01
影响因子：
3.5
通讯作者：
Burghes, AHM
中科院分区：
文献类型：
--
作者：
Monani, UR;Coovert, DD;Burghes, AHM
近端脊髓性肌萎缩症（SMA）是人类第二常见的常染色体隐性遗传性疾病。它是婴儿死亡的最常见遗传原因。到目前为止，还没有核心的神经肌肉疾病，影响下运动神经元和近端肌肉的四肢和躯干。在过去的十年里，在了解这种疾病，从连锁分析到分离缺陷基因和鉴定其蛋白质产物方面取得了重大进展。本文综述了SMA研究的最新进展：疾病的动物模型，特别是SMA小鼠模型的发展，我们在这里描述的SMA小鼠表现出与SMA患者相似的症状。他们承诺进一步了解这种疾病的分子基础，并证明使用在所有SMA患者中发现的完整SMN2基因作为治疗这种疾病的方法的可行性。
Proximal spinal muscular atrophy (SMA) is the second most common autosomal recessive inherited disorder in humans. It is the most common genetic cause of infant mortality. As yet, there is no core for this neuromuscular disorder which affects the lower motor neurons and proximal muscles of the limbs and trunk. In the last decade, significant advances have been made in understanding this disease, from linkage analysis to isolating the defective gene and identifying its protein product, This review summarizes the most recent advance in SMA research: the development of animal models of the disease, in particular mouse models of SMA, The SMA mice that we describe here present with symptoms similar to those seen in SMA patients. They promise to further the understanding of the molecular basis of this disease and demonstrate the feasibility of using the intact SMN2 gene, found in all SMA patients, as a means of treating this disorder.