探索自闭症谱系障碍和帕金森病的共同基因:系统回顾

Kanchan Bala , Khadga Raj Aran
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引用次数: 0

摘要

自闭症谱系障碍(ASD)和帕金森病(PD)是与不同脑区相关的神经发育障碍。自闭症的特点是社交沟通技能迟缓和重复行为受限。相反,帕金森病是一种进行性神经退行性疾病,影响基底神经节,导致静止性震颤、僵直、姿势不稳和运动迟缓。这两种疾病在受影响的脑区(包括运动控制和社交行为)方面有相似之处。在这两种疾病中,PARK2、SHANK3、SLC、RIT2、DRD2 和 CD157/BST1 基因都参与调节突触功能和多巴胺神经元。PARK2 是一种 E3 泛素连接酶,其突变可导致有丝分裂吞噬功能失调,造成受损线粒体的堆积,导致神经元细胞死亡,这是帕金森病的特征之一。在一些 ASD 患者中也观察到 PARK2 通路紊乱,它参与标记受损或不需要的蛋白质进行降解,导致折叠错误或功能障碍蛋白质的积累,从而可能导致神经发育异常。PINK1 对于维持线粒体质量和消除产生活性氧 (ROS) 的功能障碍线粒体至关重要。该基因突变会导致线粒体受损和 ROS 生成增加,从而导致产生多巴胺的神经元发生神经退行性变。这篇综述重点介绍了与 ASD 和 PD 病因有关的各种基因及其对未来的影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Exploring the common genes involved in autism spectrum disorder and Parkinson's disease: A systematic review
Autism Spectrum Disorder (ASD) and Parkinson's disease (PD) are distinct neurodevelopmental disorders associated with distinct brain areas. ASD is characterized by delayed social communication skills and restricted repetitive behaviours. Conversely, PD is a progressive neurodegenerative disorder affecting basal ganglia, causing resting tremor, rigidity, postural instability, and bradykinesia. Both diseases share similarities in affected brain areas, including motor control and social behaviour. In both diseases, PARK2, SHANK3, SLC, RIT2, DRD2, and CD157/BST1 genes are involved by regulating synaptic function and dopamine neurons. Mutations in PARK2, an E3 ubiquitin ligase, can lead to dysfunctional mitophagy, causing the accumulation of damaged mitochondria and contributing to neuronal cell death, a hallmark of PD. PARK2 pathway disruptions have also been observed in some individuals with ASD, which are involved in tagging damaged or unwanted proteins for degradation, leading to the accumulation of misfolded or dysfunctional proteins that may contribute to neurodevelopmental abnormalities. PINK1 is crucial for maintaining mitochondrial quality and eliminating dysfunctional ones that produce reactive oxygen species (ROS). Mutations in this gene lead to damaged mitochondria and increased ROS production, contributing to neurodegeneration in dopamine-producing neurons. This review highlighted the various genes involved in pathogeneses of ASD and PD with their future implications.
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来源期刊
Aging and health research
Aging and health research Clinical Neurology, Public Health and Health Policy, Geriatrics and Gerontology
CiteScore
0.60
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12 weeks
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