The genetic mechanism of Alzheimer's disease family in China has been revealed
Last Update: 2021-01-04
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alzheimer's disease (AD) is a common disease in the elderly population, but familial Alzheimer's disease (FAD) is rare. However, because FAD patients focus on all the pathophysiological characteristics of AD disease, it has become the industry experts to study the pathogenesis of AD the best population.
since the first AD patients were reported in 1906, important pathogenesis advances such as the A-beta theory, the tau theory, the inflammatory theory, etc. have all come from THED research. Therefore, most scholars generally agree that the study of AD needs to start with THED.
Recently, Jia Jianping, a professor at Xuanwu Hospital of Capital Medical University, conducted a 17-year follow-up study of 404 Chinese FAD family departments, which revealed the genetic law of the disease in depth and provided a theoretical basis for AD's genetic intervention and gene therapy in China. The study was published in Alzheimer's and Dementia.
that the team has been building the country's largest FAD registration network (CFAN) since 2002 to collect FAD cases across the country. By September 2019, a total of 404 family members and more than 3,700 family members had been collected. CFAN is also currently the world's largest FAD registration network.
researchers found 50 PSENs/APP mutations, 11 of which were first reported internationally, indicating Chinese heterogeneity of pathogenesis with other races. "But 83.17 percent of the 404 family lineages do not carry the known gene PSENs/APP mutation, and there are still a number of unknown genes to be excavated, which will have an important impact on the discovery of Chinese AD's characteristic genes." Jia jianping said the team reported China's first FAD in 2005, which opened the way for genetic research into AD. After long-term systematic research, they gradually solved the mystery of Chinese FAD gene mutation, which has an important impact on understanding the pathogenesis of Chinese AD, but also for chinese AD genetic intervention and gene therapy to provide ideas and platforms.
the future, it may be expected to start with editing, reverse genetic defects, and find new breakthroughs for the eventual cure of AD. Jia Jianping said. (Source: Zhang Siwei, China Science Journal)
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