Department of Molecular and Cell Biology, University of Texas at Dallas, Richardson, Texas 75080, USA.
J Neurosci. 2013 Jul 17;33(29):11833-8. doi: 10.1523/JNEUROSCI.5831-12.2013.
Huntington's disease (HD) is caused by a polyglutamine expansion within the huntingtin (Htt) protein. Both loss of function of normal Htt and gain of a toxic function by the polyglutamine-expanded mutant Htt protein have been proposed to be responsible for HD, although the molecular mechanisms involved are unclear. We show that Htt is a neuroprotective protein in both HD-related and unrelated model systems. Neuroprotection by Htt is mediated by its sequestration of histone deacetylase-3 (HDAC3), a protein known to promote neuronal death. In contrast to the normal Htt, mutant Htt interacts poorly with HDAC3. However, expression of mutant Htt liberates HDAC3 from Htt, thus de-repressing its neurotoxic activity. Indeed, mutant Htt neurotoxicity is inhibited by the knockdown of HDAC3 and markedly reduced in HDAC3-deficient neurons. A reduction in Htt-HDAC3 interaction is also seen in neurons exposed to other apoptotic stimuli and in the striatum of R6/2 HD mice. Our results suggest that the robust interaction between Htt and HDAC3 along with the ability of mutant Htt to disrupt this association while not itself interacting with HDAC3 provides an explanation for both the loss-of-function and gain-of-toxic-function mechanisms proposed for HD. Moreover, our results identify HDAC3 as an essential player in mutant Htt-induced neurodegeneration.
亨廷顿病(HD)是由亨廷顿(Htt)蛋白内的多聚谷氨酰胺扩展引起的。正常 Htt 的功能丧失和多聚谷氨酰胺扩展的突变 Htt 蛋白获得毒性功能都被认为是导致 HD 的原因,尽管涉及的分子机制尚不清楚。我们表明,在与 HD 相关和不相关的模型系统中,Htt 是一种神经保护蛋白。Htt 通过将组蛋白去乙酰化酶-3(HDAC3)隔离来介导神经保护作用,HDAC3 是一种已知促进神经元死亡的蛋白质。与正常 Htt 不同,突变 Htt 与 HDAC3 相互作用不佳。然而,突变 Htt 的表达将 HDAC3 从 Htt 中释放出来,从而解除其神经毒性活性。事实上,突变 Htt 的神经毒性可通过 HDAC3 的敲低来抑制,并在 HDAC3 缺陷神经元中显著降低。在暴露于其他凋亡刺激的神经元中和 R6/2 HD 小鼠的纹状体中也观察到 Htt-HDAC3 相互作用减少。我们的结果表明,Htt 和 HDAC3 之间的强烈相互作用,以及突变 Htt 破坏这种关联的能力,而自身不与 HDAC3 相互作用,为 HD 提出的功能丧失和获得毒性功能机制提供了解释。此外,我们的结果表明,HDAC3 是突变 Htt 诱导的神经退行性变的一个重要参与者。