Key Laboratory of Zoonosis Research, Ministry of Education, Jilin University, Changchun, 130062, China.
J Neurol. 2023 Aug;270(8):3723-3732. doi: 10.1007/s00415-023-11781-4. Epub 2023 May 24.
With increasing life expectancy, a growing number of individuals are being affected by Parkinson's Disease (PD), a Neurodegenerative Disease (ND). Approximately, 5-10% of PD is explained by genetic causes linked to known PD genes. With improvements in genetic testing and high-throughput technologies, more PD-associated susceptibility genes have been reported in recent years. However, a comprehensive review of the pathogenic mechanisms and physiological roles of these genes is still lacking. This article reviews novel genes with putative or confirmed pathogenic mutations in PD reported since 2019, summarizes the physiological functions and potential associations with PD. Newly reported PD-related genes include ANK2, DNAH1, STAB1, NOTCH2NLC, UQCRC1, ATP10B, TFG, CHMP1A, GIPC1, KIF21B, KIF24, SLC25A39, SPTBN1 and TOMM22. However, the evidence for pathogenic effects of many of these genes is inconclusive. A variety of novel PD-associated genes have been identified through clinical cases of PD patients and analysis of Genome-Wide Association Studies (GWAS). However, more evidence is needed in confirm the strong association of novel genes with disease.
随着预期寿命的延长,越来越多的人受到帕金森病 (PD) 的影响,这是一种神经退行性疾病 (ND)。大约 5-10%的 PD 是由与已知 PD 基因相关的遗传原因引起的。随着遗传测试和高通量技术的改进,近年来报告了更多与 PD 相关的易感性基因。然而,这些基因的发病机制和生理作用的综合综述仍然缺乏。本文综述了自 2019 年以来报道的具有潜在或已确认致病性突变的新型 PD 相关基因,总结了这些基因的生理功能及其与 PD 的潜在关联。新报告的 PD 相关基因包括 ANK2、DNAH1、STAB1、NOTCH2NLC、UQCRC1、ATP10B、TFG、CHMP1A、GIPC1、KIF21B、KIF24、SLC25A39、SPTBN1 和 TOMM22。然而,这些基因具有致病性作用的证据并不明确。通过 PD 患者的临床病例和全基因组关联研究 (GWAS) 的分析,已经确定了多种新型 PD 相关基因。然而,需要更多的证据来确认新型基因与疾病的强关联。