Huntley George W, Benson Deanna L
Nash Family Department of Neuroscience, Friedman Brain Institute, Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Front Neurosci. 2020 Mar 26;14:265. doi: 10.3389/fnins.2020.00265. eCollection 2020.
Late-onset Parkinson's disease (PD) is dominated clinically and experimentally by a focus on dopamine neuron degeneration and ensuing motor system abnormalities. There are, additionally, a number of non-motor symptoms - including cognitive and psychiatric - that can appear much earlier in the course of the disease and also significantly impair quality of life. The neurobiology of such cognitive and psychiatric non-motor symptoms is poorly understood. The recognition of genetic forms of late-onset PD, which are clinically similar to idiopathic forms in both motor and non-motor symptoms, raises the perspective that brain cells and circuits - and the behaviors they support - differ in significant ways from normal by virtue of the fact that these mutations are carried throughout life, including especially early developmental critical periods where circuit structure and function is particularly susceptible to the influence of experience-dependent activity. In this focused review, we support this central thesis by highlighting studies of LRRK2-G2019S mouse models. We describe work that shows that in G2019S mutants, corticostriatal activity and plasticity are abnormal by P21, the end of a period of excitatory synaptogenesis in striatum. Moreover, by young adulthood, impaired striatal synaptic and non-synaptic forms of plasticity likely underlie altered and variable performance by mutant mice in validated tasks that test for depression-like and anhedonia-like behaviors. Mechanistically, deficits in cellular, synaptic and behavioral plasticity may be unified by mutation-linked defects in trafficking of AMPAR subunits and other membrane channels, which in turn may reflect impairment in the function of the Rab family of GTPases, a major target of LRRK2 phosphorylation. These findings underscore the need to better understand how PD-related mutant proteins influence brain structure and function during an extended period of brain development, and offer new clues for future therapeutic strategies to target non-motor cognitive or psychiatric symptoms of PD.
迟发性帕金森病(PD)在临床和实验上主要关注多巴胺神经元变性及随之而来的运动系统异常。此外,还有一些非运动症状,包括认知和精神方面的症状,这些症状可能在疾病进程中更早出现,并且也会显著损害生活质量。人们对这类认知和精神非运动症状的神经生物学了解甚少。迟发性PD遗传形式的发现,其在运动和非运动症状方面在临床上与特发性形式相似,这引发了一种观点,即脑细胞和神经回路以及它们所支持的行为,由于这些突变在一生中都存在,包括特别是在早期发育关键时期,此时回路结构和功能特别容易受到经验依赖性活动的影响,因而与正常情况有显著差异。在这篇重点综述中,我们通过强调对LRRK2-G2019S小鼠模型的研究来支持这一核心论点。我们描述的研究表明,在G2019S突变体中,到P21时皮质纹状体活动和可塑性异常,P21是纹状体兴奋性突触形成期的结束。此外,到成年早期,纹状体突触和非突触形式可塑性受损可能是突变小鼠在测试抑郁样和快感缺失样行为的验证任务中表现改变和多变的基础。从机制上讲,细胞、突触和行为可塑性的缺陷可能通过与突变相关的AMPAR亚基和其他膜通道转运缺陷而统一起来,这反过来可能反映了GTPases的Rab家族功能受损,Rab家族是LRRK2磷酸化的主要靶点。这些发现强调了需要更好地理解与PD相关的突变蛋白在大脑发育的延长时期如何影响脑结构和功能,并为未来针对PD非运动认知或精神症状的治疗策略提供了新线索。