New genes and pathogenesis of autism were revealed
New genes and pathogenesis of autism were revealed August 29, 2018 Source: Health News “At present, although hundreds of autism-related genes have been reported, only a few genes have been elucidated in animal models, which leads to a huge gap between autism genetics and clinical diagnosis and treatment.†China Researcher Sun Zhongsheng from the Beijing Institute of Life Sciences of the Academy of Sciences said. Sun Zhongsheng team cooperated with the Xiangya Hospital of Central South University and the School of Life Sciences of Central South University to find a new autism-related gene PAK2 through genetic screening. The animal model was used to study the intrinsic molecular mechanism of the gene in the pathogenesis of autism. It provides an experimental basis for the accurate diagnosis and treatment of autism. The research results were recently published online in Cell Communication. Children's autism spectrum disorder is a general term for a large class of early-onset, complex neuropsychiatric disorders. With the improvement of screening and diagnostic level and the level of public awareness, the prevalence of autism in all countries in the world has shown an upward trend, and the prevalence rate in children aged 0-8 years is 1% to 2%. Finding new key genes and elucidating their pathogenesis is critical for studying the pathogenesis of autism and further clinical treatment. In this study, the researchers identified 914 patients with typical autism who were enrolled and identified a new nonsense mutation site at the PAK2 gene and a new copy number deletion containing the PAK2 gene at chromosome 3q29. They also found that in the mouse model, loss of the PAK2 gene results in neurodevelopmental and morphological defects as well as autism-like behavior. "The important functions of PAK2 in brain development are determined from various levels such as molecular biochemistry, morphological structure, behavior and genetics, and it is determined that the cytoskeletal pathway regulated by PAK2 can widely regulate multiple autism-related functional networks. It is the pathway that affects many autism gene mutations." Sun Zhongsheng said that the chromosome 3q29 deletion syndrome is caused by a deletion in a continuous region located at the q29 position of the long arm of chromosome 3. Such patients exhibit a variety of neuropsychiatric symptoms, including mental retardation, autism, epilepsy, facial defects, and the like. But so far, the intrinsic pathogenesis of chromosome 3q29 deletion syndrome is still unclear. Sun Zhongsheng said that this study not only provides a new animal model for the study of autism, but also provides an experimental basis for the accurate diagnosis and treatment of autism and chromosome 3q29 deficiency syndrome. In addition, since the PAK2 gene is located in the 3q29 deletion region, the study also provides scientific evidence for explaining the intrinsic molecular mechanism of chromosome 3q29 deletion syndrome. (Reporter Wang Yuyu) Blush,Pink Blush,Cream Blush,Blush Color Guangzhou Lingxue Cosmetics Co., Ltd , https://www.lxgj188.com