Costa Maria do Carmo, Ashraf Naila S, Fischer Svetlana, Yang Yemen, Schapka Emily, Joshi Gnanada, McQuade Thomas J, Dharia Rahil M, Dulchavsky Mark, Ouyang Michelle, Cook David, Sun Duxin, Larsen Martha J, Gestwicki Jason E, Todi Sokol V, Ivanova Magdalena I, Paulson Henry L
Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
Department of Pharmacology, Wayne State University, Detroit, MI, USA.
Brain. 2016 Nov 1;139(11):2891-2908. doi: 10.1093/brain/aww228.
No disease-modifying treatment exists for the fatal neurodegenerative polyglutamine disease known both as Machado-Joseph disease and spinocerebellar ataxia type 3. As a potential route to therapy, we identified small molecules that reduce levels of the mutant disease protein, ATXN3. Screens of a small molecule collection, including 1250 Food and Drug Administration-approved drugs, in a novel cell-based assay, followed by secondary screens in brain slice cultures from transgenic mice expressing the human disease gene, identified the atypical antipsychotic aripiprazole as one of the hits. Aripiprazole increased longevity in a Drosophila model of Machado-Joseph disease and effectively reduced aggregated ATXN3 species in flies and in brains of transgenic mice treated for 10 days. The aripiprazole-mediated decrease in ATXN3 abundance may reflect a complex response culminating in the modulation of specific components of cellular protein homeostasis. Aripiprazole represents a potentially promising therapeutic drug for Machado-Joseph disease and possibly other neurological proteinopathies.
对于既被称为马查多-约瑟夫病又被称为3型脊髓小脑共济失调的致命神经退行性多聚谷氨酰胺疾病,目前尚无疾病修饰治疗方法。作为一种潜在的治疗途径,我们鉴定出了能降低突变疾病蛋白ATXN3水平的小分子。在一种新型细胞检测中对一个小分子库(包括1250种美国食品药品监督管理局批准的药物)进行筛选,随后在表达人类疾病基因的转基因小鼠的脑片培养物中进行二次筛选,确定非典型抗精神病药物阿立哌唑为其中一个阳性结果。阿立哌唑延长了马查多-约瑟夫病果蝇模型的寿命,并有效减少了经10天治疗的果蝇和转基因小鼠大脑中聚集的ATXN3蛋白。阿立哌唑介导的ATXN3丰度降低可能反映了一种复杂的反应,最终导致细胞蛋白质稳态的特定成分受到调节。阿立哌唑是一种对马查多-约瑟夫病以及可能对其他神经蛋白病有潜在治疗前景的药物。