Professor Tsutomu Nakamura, Institute of Molecular and Cellular Biology, University of Tokyo, explains that the cause of autism in patients with Jacobsen's syndrome is PX-RICS, a protein involved in the transport of GABA receptors that suppress the activity of nerve cells in the brain. , A research group of Professor Toru Akiyama and others identified.These research results are expected to expand into the development of new drugs for autism in the future.
Autism is a congenital developmental disorder that affects 80 in 100 to 1 people.It is characterized by symptoms such as communication disorders and strong commitment, and is thought to be caused by disorders of the brain function that sympathize with others, which is called "social cognitive function".However, the detailed mechanism of its onset is not yet known.
This research group identified the protein "PX-RICS" that is highly expressed in nerve cells in areas related to cognitive function in the brain, such as the cerebral cortex and hippocampus, and created mice lacking that gene.This mouse is normal in appearance, but has less interest in mice other than itself, less mother-child communication using crying in the sonic range, more repetitive behavior than normal mice, and a strong commitment to habits. , Showed behavioral abnormalities characteristic of autism symptoms.Further analysis revealed that GABA receptors were expressed on the surface of neurons in normal mice, so that social cognitive function was not impaired, whereas in PX-RICS-deficient mice, GABA receptors were expressed on the surface of neurons. It was found that the impaired social cognitive function was impaired, resulting in behavioral abnormalities similar to autism.
From these results, it was identified that the PX-RICS gene is the gene responsible for autism that affects more than half of patients with Jacobsen syndrome.In humans, Jacobsen syndrome develops due to the deletion of the end of the long arm of chromosome 11, but if the region containing PX-RICS is lost at this time, autism also develops.
This study reveals a link between GABA receptor transport and the development of autism.It is expected that research will be developed to promote new therapeutic strategies for autism, such as the development of drugs targeting this mechanism.