Chinese researchers identify new autism risk gene
Chinese researchers have discovered the functions of a gene that regulates brain functions and that its deficiency can potentially cause autism.
The serine/threonine kinase PAK2 is an enzyme encoded by the PAK2 gene. It plays a key role in cytoskeleton reorganization and can control cell growth and death. Its function within the central nervous system was previously unclear.
In experiments done on mice, researchers from the Chinese Academy of Sciences removed the PAK2 gene in cells and found that the absence of the gene led to abnormal neuronal function and autism-related behaviors.
They also identified multiple PAK2 mutations in patients with autism through gene sequencing.
Autism is a highly heritable mental disorder. Symptoms include difficulty in social interactions and communication, restricted interests, and repetitive behaviors.
Previous studies have shown that more than 800 genes are related to the disease, but the mechanism of how these genes function and their roles in the origin and development of autism remain unexplored.
The research led by Sun Zhongsheng was recently published in the international journal Cell Reports.