Burnett Barrington G, Andrews Jaime, Ranganathan Srikanth, Fischbeck Kenneth H, Di Prospero Nicholas A
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
Neurobiol Dis. 2008 Jun;30(3):365-374. doi: 10.1016/j.nbd.2008.02.007. Epub 2008 Mar 6.
Huntington's disease is caused by polyglutamine expansion in the huntingtin protein. Huntingtin directly interacts with profilin, a major actin monomer sequestering protein and a key integrator of signals leading to actin polymerization. We observed a progressive loss of profilin in the cerebral cortex of Huntington's disease patients, and in cell culture and Drosophila models of polyglutamine disease. This loss of profilin is likely due to increased degradation through the ubiquitin proteasome system. Profilin loss reduces the F/G actin ratio, indicating a shift in actin polymerization. Overexpression of profilin abolishes mutant huntingtin toxicity in cells and partially ameliorates the morphological and functional eye phenotype and extends lifespan in a transgenic polyglutamine Drosophila model. These results indicate a link between huntingtin and profilin and implicate profilin in Huntington's disease pathogenesis.
亨廷顿舞蹈症是由亨廷顿蛋白中的多聚谷氨酰胺扩增引起的。亨廷顿蛋白直接与丝切蛋白相互作用,丝切蛋白是一种主要的肌动蛋白单体隔离蛋白,也是导致肌动蛋白聚合的信号的关键整合者。我们在亨廷顿舞蹈症患者的大脑皮层以及多聚谷氨酰胺疾病的细胞培养和果蝇模型中观察到丝切蛋白的逐渐丧失。丝切蛋白的这种丧失可能是由于通过泛素蛋白酶体系统增加的降解所致。丝切蛋白的丧失降低了F / G肌动蛋白比率,表明肌动蛋白聚合发生了转变。丝切蛋白的过表达消除了细胞中突变型亨廷顿蛋白的毒性,并部分改善了转基因多聚谷氨酰胺果蝇模型中的形态和功能眼表型,并延长了寿命。这些结果表明亨廷顿蛋白与丝切蛋白之间存在联系,并暗示丝切蛋白与亨廷顿舞蹈症的发病机制有关。