Thambirajah Anita A, Eubanks James H, Ausió Juan
Department of Biochemistry and Microbiology, University of Victoria, Victoria, British Columbia, Canada.
Bioessays. 2009 May;31(5):561-9. doi: 10.1002/bies.200800220.
Mutations in the methyl-CpG-binding protein 2 (MeCP2) cause Rett syndrome, a severe neurodevelopmental disease associated with ataxia and other post-natal symptoms similar to autism. Much research interest has focussed on the implications of MeCP2 in disease and neuron physiology. However, little or no attention has been paid to how MeCP2 turnover is regulated. The post-translational control of MeCP2 is of critical importance, especially as subtle increases or decreases in MeCP2 amounts can affect neuron morphology and function. The latter point is of particular importance for gene therapeutic approaches in which exogenous wild-type MeCP2 is being introduced into diseased neurons. Further to this, we propose two hypotheses. The first hypothesis discusses the poly-ubiquitin-mediated post-translational regulation of MeCP2 through its two PEST domains. The second hypothesis explores the use of histone deacetylase inhibitors to modulate the amounts of MeCP2 expressed in conjunction with the aforementioned therapeutic approaches.
甲基-CpG结合蛋白2(MeCP2)的突变会导致雷特综合征,这是一种严重的神经发育疾病,与共济失调以及其他类似于自闭症的产后症状有关。许多研究兴趣都集中在MeCP2在疾病和神经元生理学中的意义上。然而,对于MeCP2的周转是如何被调节的,人们很少或根本没有关注。MeCP2的翻译后控制至关重要,特别是因为MeCP2数量的细微增加或减少会影响神经元的形态和功能。后一点对于将外源性野生型MeCP2引入患病神经元的基因治疗方法尤为重要。除此之外,我们提出两个假设。第一个假设讨论了通过MeCP2的两个PEST结构域对其进行多聚泛素介导的翻译后调节。第二个假设探讨了使用组蛋白脱乙酰酶抑制剂来调节与上述治疗方法相结合表达的MeCP2的量。