Department of Biomedical Science, Charles E. Schmidt College of Medicine, Florida Atlantic University, Boca Raton, FL 33431, USA.
Biochem J. 2012 Feb 15;442(1):39-48. doi: 10.1042/BJ20110679.
HD (Huntington's disease) is caused by an expanded polyQ (polyglutamine) repeat in the htt (huntingtin protein). GABAergic medium spiny neurons in the striatum are mostly affected in HD. However, mhtt (mutant huntingtin)-induced molecular changes in these neurons remain largely unknown. The present study focuses on the effect of mhtt on the subcellular localization of GAD (glutamic acid decarboxylase), the enzyme responsible for synthesizing GABA (γ-aminobutyric acid). We report that the subcellular distribution of GAD is significantly altered in two neuronal cell lines that express either the N-terminus of mhtt or full-length mhtt. GAD65 is predominantly associated with the Golgi membrane in cells expressing normal htt; however, it diffuses in the cytosol of cells expressing mhtt. As a result, vesicle-associated GAD65 trafficking is impaired. Since palmitoylation of GAD65 is required for GAD65 trafficking, we then demonstrate that palmitoylation of GAD65 is reduced in the HD model. Furthermore, overexpression of HIP14 (huntingtin-interacting protein 14), the enzyme responsible for palmitoylating GAD65 in vivo, could rescue GAD65 palmitoylation and vesicle-associated GAD65 trafficking. Taken together, our data support the idea that GAD65 palmitoylation is important for the delivery of GAD65 to inhibitory synapses and suggest that impairment of GAD65 palmitoylation by mhtt may lead to altered inhibitory neurotransmission in HD.
HD(亨廷顿病)是由 htt(亨廷顿蛋白)中扩展的 polyQ(多聚谷氨酰胺)重复引起的。纹状体中的 GABA 能中间神经元在 HD 中受影响最大。然而,mhtt(突变亨廷顿蛋白)在这些神经元中引起的分子变化在很大程度上仍然未知。本研究集中于 mhtt 对负责合成 GABA(γ-氨基丁酸)的酶 GAD(谷氨酸脱羧酶)的亚细胞定位的影响。我们报告说,在表达 mhtt N 端或全长 mhtt 的两种神经元细胞系中,GAD 的亚细胞分布发生了显著改变。在表达正常 htt 的细胞中,GAD65 主要与高尔基体膜相关;然而,在表达 mhtt 的细胞中,它在细胞质中扩散。因此,囊泡相关的 GAD65 运输受到损害。由于 GAD65 的棕榈酰化对于 GAD65 的运输是必需的,因此我们随后证明在 HD 模型中 GAD65 的棕榈酰化减少。此外,体内负责棕榈酰化 GAD65 的酶 HIP14(亨廷顿蛋白相互作用蛋白 14)的过表达可以挽救 GAD65 的棕榈酰化和囊泡相关的 GAD65 运输。总之,我们的数据支持 GAD65 棕榈酰化对于将 GAD65 递送到抑制性突触很重要的观点,并表明 mhtt 对 GAD65 棕榈酰化的损害可能导致 HD 中抑制性神经传递的改变。