Fujian Key Laboratory for Translational Research in Cancer and Neurodegenerative Diseases, Institute for Translational Medicine, School of Basic Medical Sciences, Fujian Medical University, Fuzhou 350122, China.
Int J Mol Sci. 2020 Mar 30;21(7):2381. doi: 10.3390/ijms21072381.
Alzheimer's disease (AD) is a neurodegenerative disease characterized by progressive cognitive dysfunction and behavioral impairment. In China, the number of AD patients is growing rapidly, which poses a considerable burden on society and families. In recent years, through the advancement of genome-wide association studies, second-generation gene sequencing technology, and their application in AD genetic research, more genetic loci associated with the risk for AD have been discovered, including , and , which provides new ideas for the etiology and treatment of AD. This review summarizes three early-onset AD causative genes (, , and ) and some late-onset AD susceptibility genes and their mutation sites newly discovered in China, and briefly introduces the potential mechanisms of these genetic susceptibilities in the pathogenesis of AD, which would help in understanding the genetic mechanisms underlying this devastating disease.
阿尔茨海默病(AD)是一种神经退行性疾病,其特征是进行性认知功能障碍和行为损害。在中国,AD 患者的数量正在迅速增加,这给社会和家庭带来了相当大的负担。近年来,通过全基因组关联研究、二代基因测序技术及其在 AD 遗传研究中的应用,发现了更多与 AD 发病风险相关的遗传位点,包括、和等,为 AD 的病因学和治疗提供了新的思路。本综述总结了三种早发性 AD 致病基因(、和)和一些在中国新发现的晚发性 AD 易感性基因及其突变位点,并简要介绍了这些遗传易感性在 AD 发病机制中的潜在机制,有助于理解这种破坏性疾病的遗传机制。