Katsuno Masahisa, Banno Haruhiko, Suzuki Keisuke, Adachi Hiroaki, Tanaka Fumiaki, Sobue Gen
Department of Neurology, Nagoya University Graduate School of Medicine.
Rinsho Shinkeigaku. 2011 Nov;51(11):982-5. doi: 10.5692/clinicalneurol.51.982.
Transforming growth factor beta (TGF-beta), a pleiotropic cytokine, regulates a diverse range of cellular responses, such as proliferation, differentiation, migration, and apoptosis. Recent studies indicate that disruption of TGF-beta signaling due to the transcriptional dysregulation of its receptor is associated with polyglutamine-induced motor neuron damage in spinal and bulbar muscular atrophy. Moreover, a single-nucleotide polymorphism (SNP) in the promoter region of ZNF512B, a putative regulator of TGF-beta signaling, is shown to be associated with susceptibility to amyotrophic lateral sclerosis. Signal transduction by BMP, a member of the TGF-beta super family, is decreased in a fly model of spinal muscular atrophy, while the abnormal activation of this signaling has been reported in animal models of hereditary spastic paraplegia. These findings support the hypothesis that the disruption of TGF-beta signaling is an important molecular event in the pathogenesis of motor neuron diseases, and that the modification of this signaling pathway represents a new therapeutic strategy against these devastating disorders.
转化生长因子β(TGF-β)是一种多效性细胞因子,可调节多种细胞反应,如增殖、分化、迁移和凋亡。最近的研究表明,由于其受体的转录失调导致TGF-β信号传导中断与脊髓延髓性肌萎缩中多聚谷氨酰胺诱导的运动神经元损伤有关。此外,ZNF512B(一种假定的TGF-β信号调节因子)启动子区域的单核苷酸多态性(SNP)与肌萎缩侧索硬化易感性相关。骨形态发生蛋白(BMP)是TGF-β超家族的成员之一,在脊髓性肌萎缩的果蝇模型中其信号转导减少,而在遗传性痉挛性截瘫的动物模型中已报道该信号的异常激活。这些发现支持了这样的假设,即TGF-β信号传导中断是运动神经元疾病发病机制中的一个重要分子事件,并且该信号通路的修饰代表了针对这些毁灭性疾病的一种新的治疗策略。