The genetic mechanism of Chinese Alzheimer's disease families has been revealed

Alzheimer's disease (AD) is a common disease in the elderly, but familial Alzheimer's disease (FAD) is very rare However, because fad patients focus on all the pathophysiological characteristics of AD, they become the best population for experts in the industry to study the pathogenesis of AD Since the first case of AD was reported in 1906, the important progress of pathogenesis, such as a β theory, tau theory, inflammation theory and so on, has come from the research of fad Therefore, most scholars generally believe that the study of ad needs to start from fad Recently, Jia Jianping, a professor from Xuanwu Hospital of Capital Medical University, made a 17-year follow-up study on 404 Chinese fad families, systematically revealed the genetic law of the disease, and provided a theoretical basis for genetic intervention and gene therapy of ad in China The study was published in Alzheimer's & dementia It is understood that since 2002, the team has established the largest fad registration network (cfan) in the country to collect cases of fad By September 2019, 404 families and more than 3700 family members were collected Cfan is also the largest fad registration network in the world The researchers found 50 psens / APP mutations, 11 of which are the first reported in the world, indicating the heterogeneity of pathogenesis between Chinese and other ethnic groups "However, 83.17% of 404 families do not carry psens / APP mutations, and there are still a lot of unknown genes to be discovered, which will have an important impact on the discovery of ad characteristic genes in China." Jia Jianping said that the team reported the first case of fad in China in 2005, which started the research of AD from the perspective of genetics After a long-term systematic study, they gradually revealed the mystery of fad gene mutation in Chinese, which had an important impact on understanding the pathogenesis of ad in Chinese, and also provided a thinking and platform for genetic intervention and gene therapy of ad in Chinese "In the future, it may be possible to reverse gene defects and find a new breakthrough point for the final cure of AD from the perspective of editing." Jia said