Recently, Andy Peng Xiang, a member of the academic committee of Guangzhou Regenerative Medicine and Health Guangdong Laboratory, also a professor of Sun Yat-Sen University, and his team members including associate Prof. Qiong Ke, have been working together with other teams from Brain Cognition and Brain Disease Institute, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Massachusetts Institute of Technology, and South China Agricultural University. Using CRISPR/Cas9 gene editing, researchers generated germline-transmissible mutations of SHANK3 in cynomolgus macaques and their F1 offspring linked to autism. It's the first time that scientists engineered primate models which exhibited clinical symptoms of human autism spectrum disorder (Phelan-McDermid Syndrome). SHANK3 mutants exhibited sleep disturbances, motor deficits and increased repetitive behaviours, as well as social and learning impairments. Furthermore, analysis of data from functional magnetic resonance imaging revealed altered local and global connectivity patterns that were indicative of circuit abnormalities. Therefore, the new type of model could help scientists understand the pathogenesis of autism, and develop better clinical treatment options.
This study named "Atypical behaviour and connectivity in SHANK3-mutant macaques" appears in the June 12th online edition of Nature. Prof. Andy Peng Xiang, Prof. Huihui Zhou of the Shenzhen Institutes of Advanced Technology, Prof. Guoping Feng of Massachusetts Institute of Technology, and Prof. Shihua Yang of South China Agricultural University are senior authors of the study, and associate Prof. Qiong Ke of Zhongshan School of Medicine, Sun Yat-Sen University is the paper's Co-first author.