September 01, 2017 16:00 - 17:00
BSI Central Building 1F Seminar Room
Genetic Basis of Alzheimer Disease
Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223, China
CAS Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai 200031, China
Alzheimer's disease (AD) is the most common neurodegenerative disease in the elderly and is becoming a serious global health issue. The major histological features of the disease include the presence of intracellular neurofibrillary tangles, extracellular amyloid β peptide (Aβ) deposition, synaptic dysfunction, and loss of neuronal integrity. The underlying cause of the disease is unclear in most cases, but numerous genetic alterations have been identified as being associated with AD risk. In particular, recent genome-wide association studies have identified two dozen AD susceptibility genes in European populations or populations of European ancestry. Yet most of the GWAS loci are non-coding common variants with unknown function, and have a modest effect size. Moreover, population heterogeneity has limited the efforts to characterize the genetic basis of AD. In my talk, I will focus on our genetic studies of AD by using a systematic integrated analysis and Chinese populations. By way of example, we showed that profiling the spatial-temporal expression pattern and characterizing the regulatory networks of brain tissues reveals YAP1 and other prioritized hub genes as important upstream regulators in AD. RPL13 might be a causal gene underlying the reported epigenome-wide association study (EWAS) hit of AD and affected Alzheimer’s key pathological changes via the RPL13-p53-mediated signaling. Variants in immune-related genes, such as CFH, affected structural and functional brain changes and genetic risk of AD in Han Chinese. The prioritized gene list and upstream regulators in our study might benefit further gene-centered, hypothesis-driven research, as well as for the diagnosis and treatment of AD.
- Open to Public
Name: BSI Postdoctoral Fellow Association