Institute of Translational Neuroscience, University of Minnesota, Minneapolis, MN, 55455, USA.
Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, 55455, USA.
Cerebellum. 2023 Aug;22(4):756-760. doi: 10.1007/s12311-022-01428-x. Epub 2022 Jun 23.
This is a summary of the virtual presentation given at the 2021 meeting of the Society for Research on the Cerebellum and Ataxias, https://www.meetings.be/SRCA2021/ , where the therapeutic potential of the CCK-CCK1R pathway for treating diseases involving Purkinje cell degeneration was presented. Spinocerebellar ataxia type 1 (SCA1) is one of a group of almost 50 genetic diseases characterized by the degeneration of cerebellar Purkinje cells. The SCA1 Pcp2-ATXN1[30Q]D776 mouse model displays ataxia, i.e. Purkinje cell dysfunction, but lacks progressive Purkinje cell degeneration. RNA-seq revealed increased expression of cholecystokinin (CCK) in cerebella of Pcp2-ATXN1[30Q]D776 mice. Importantly, the absence of Cck1 receptor (CCK1R) in Pcp2-ATXN1[30Q]D776 mice conferred a progressive degenerative disease with Purkinje cell loss. Administration of a CCK1R agonist to Pcp2-AXTN1[82Q] mice reduced Purkinje cell pathology and associated deficits in motor performance. In addition, administration of the CCK1R agonist improved motor performance of Pcp2-ATXN2[127Q] SCA2 mice. Furthermore, CCK1R activation corrected mTORC1 signaling and improved the expression of calbindin in the cerebella of AXTN1[82Q] and ATXN2[127Q] mice. These results support the Cck-Cck1R pathway is a potential therapeutic target for the treatment of diseases involving Purkinje neuron degeneration.
这是在 2021 年小脑和共济失调研究协会会议上的虚拟演讲的摘要,网址为 https://www.meetings.be/SRCA2021/ ,会上介绍了 CCK-CCK1R 通路在治疗涉及浦肯野细胞退化的疾病方面的治疗潜力。脊髓小脑共济失调 1 型(SCA1)是一组几乎 50 种遗传疾病之一,其特征是小脑浦肯野细胞退化。SCA1 Pcp2-ATXN1[30Q]D776 小鼠模型表现出共济失调,即浦肯野细胞功能障碍,但缺乏进行性浦肯野细胞退化。RNA-seq 显示 Pcp2-ATXN1[30Q]D776 小鼠小脑胆缩胆囊素(CCK)表达增加。重要的是,Pcp2-ATXN1[30Q]D776 小鼠中 Cck1 受体(CCK1R)的缺失导致进行性退化性疾病伴有浦肯野细胞丢失。CCK1R 激动剂给药可减少 Pcp2-AXTN1[82Q]小鼠的浦肯野细胞病理学和相关运动表现缺陷。此外,CCK1R 激动剂给药可改善 Pcp2-ATXN2[127Q]SCA2 小鼠的运动表现。此外,CCK1R 激活可纠正 mTORC1 信号并改善 AXTN1[82Q]和 ATXN2[127Q]小鼠小脑内钙结合蛋白的表达。这些结果支持 Cck-Cck1R 通路是治疗涉及浦肯野神经元退化的疾病的潜在治疗靶点。