Rodríguez-Cueto Carmen, Hernández-Gálvez Mariluz, Hillard Cecilia J, Maciel Patricia, Valdeolivas Sara, Ramos José A, Gómez-Ruiz María, Fernández-Ruiz Javier
Instituto Universitario de Investigación en Neuroquímica, Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Madrid, Spain.
PLoS One. 2017 Apr 27;12(4):e0176521. doi: 10.1371/journal.pone.0176521. eCollection 2017.
Spinocerebellar ataxia type-3 (SCA-3) is the most prevalent autosomal dominant inherited ataxia. We recently found that the endocannabinoid system is altered in the post-mortem cerebellum of SCA-3 patients, and similar results were also found in the cerebellar and brainstem nuclei of a SCA-3 transgenic mouse model. Given that the neuropathology of SCA-3 is not restricted to these two brain regions but rather, it is also evident in other structures (e.g., the basal ganglia), we studied the possible changes to endocannabinoid signaling in the striatum of these transgenic mice. SCA-3 mutant mice suffer defects in motor coordination, balance and they have an abnormal gait, reflecting a cerebellar/brainstem neuropathology. However, they also show dystonia-like behavior (limb clasping) that may be related to the malfunction/deterioration of specific neurons in the striatum. Indeed, we found a loss of striatal projecting neurons in SCA-3 mutant mice, accompanied by a reduction in glial glutamate transporters that could potentially aggravate excitotoxic damage. In terms of endocannabinoid signaling, no changes in CB2 receptors were evident, yet an important reduction in CB1 receptors was detected by qPCR and immunostaining. The reduction in CB1 receptors was presumed to occur in striatal afferent and efferent neurons, also potentially aggravating excitotoxicity. We also measured the endocannabinoid lipids in the striatum and despite a marked increase in the FAAH enzyme in this area, no overall changes in these lipids were found. Collectively, these studies confirm that the striatal endocannabinoid system is altered in SCA-3 mutant mice, adding to the equivalent changes found in other strongly affected CNS structures in this type of ataxia (i.e.: the cerebellum and brainstem). These data open the way to search for drugs that might correct these changes.
3型脊髓小脑共济失调(SCA - 3)是最常见的常染色体显性遗传性共济失调。我们最近发现,SCA - 3患者的死后小脑内源性大麻素系统发生了改变,在SCA - 3转基因小鼠模型的小脑和脑干核中也发现了类似结果。鉴于SCA - 3的神经病理学不仅局限于这两个脑区,在其他结构(如基底神经节)中也很明显,我们研究了这些转基因小鼠纹状体中内源性大麻素信号可能发生的变化。SCA - 3突变小鼠存在运动协调、平衡缺陷以及步态异常,反映出小脑/脑干神经病理学特征。然而,它们还表现出类似肌张力障碍的行为(肢体紧握),这可能与纹状体中特定神经元的功能障碍/退化有关。事实上,我们发现SCA - 3突变小鼠中纹状体投射神经元缺失,同时胶质谷氨酸转运体减少,这可能会加重兴奋性毒性损伤。在内源性大麻素信号方面,CB2受体没有明显变化,但通过qPCR和免疫染色检测到CB1受体显著减少。CB1受体的减少推测发生在纹状体传入和传出神经元中,也可能加重兴奋性毒性。我们还测量了纹状体中的内源性大麻素脂质,尽管该区域FAAH酶显著增加,但这些脂质没有整体变化。总体而言,这些研究证实SCA - 3突变小鼠的纹状体内源性大麻素系统发生了改变,这与在这种共济失调中其他受严重影响的中枢神经系统结构(即小脑和脑干)中发现的类似变化一致。这些数据为寻找可能纠正这些变化的药物开辟了道路。