SCA21中突变的TMEM240蛋白在浦肯野细胞和突触终末中表达
The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals
摘要：
编码跨膜蛋白240（TMEM 240）的基因中的多种错义突变和终止突变已被报道是脊髓小脑共济失调21（SCA 21）的致病突变。我们的目的是研究TMEM240蛋白在小鼠脑组织，细胞和亚细胞水平的表达。免疫荧光标记显示TMEM 240在大脑的各个区域中表达，在海马、同皮质和小脑中表达水平最高。在小脑中，在深核和小脑皮质中检测到TMEM 240。该蛋白质在皮质的所有三层和各种小脑神经元中表达。TMEM240定位于攀缘，苔藓，平行纤维传入投射到浦肯野细胞，所示的免疫共染色与VGLUT 1和VGLUT 2。共免疫染色与突触素，突触后分离，并确认电子显微镜显示TMEM 240被定位到突触后的浦肯野细胞胞体附近的突触侧。在人类小脑切片中获得了类似的结果。这些数据表明，TMEM 240可能参与小脑网络的组织，特别是在浦肯野细胞的突触输入汇聚。本研究首次描述了TMEM 240在正常小鼠脑中的表达。
英文摘要：
A variety of missense mutations and a stop mutation in the gene coding for transmembrane protein 240 (TMEM240) have been reported to be the causative mutations of spinocerebellar ataxia 21 (SCA21). We aimed to investigate the expression of TMEM240 protein in mouse brain at the tissue, cellular, and subcellular levels. Immunofluorescence labeling showed TMEM240 to be expressed in various areas of the brain, with the highest levels in the hippocampus, isocortex, and cerebellum. In the cerebellum, TMEM240 was detected in the deep nuclei and the cerebellar cortex. The protein was expressed in all three layers of the cortex and various cerebellar neurons. TMEM240 was localized to climbing, mossy, and parallel fiber afferents projecting to Purkinje cells, as shown by coimmunostaining with VGLUT1 and VGLUT2. Co-immunostaining with synaptophysin, post-synaptic fractionation, and confirmatory electron microscopy showed TMEM240 to be localized to the post-synaptic side of synapses near the Purkinje-cell soma. Similar results were obtained in human cerebellar sections. These data suggest that TMEM240 may be involved in the organization of the cerebellar network, particularly in synaptic inputs converging on Purkinje cells. This study is the first to describe TMEM240 expression in the normal mouse brain.
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