An international research group led by Professor Toru Takumi (Senior Visiting Scientist, RIKEN Center for Biosystems Dynamics Research) and Researcher Chia-wen Lin at Kobe University Graduate School of Medicine has shown that idiopathic autism is caused by epigenetic abnormalities in hematopoietic cells during fetal development, which results in immune dysregulation in the brain and gut. The results of the study revealed that in autism, there are immune abnormalities that can be seen in the brain and gut. The further classification of the pathophysiology of autism could lead to the creation of new treatment strategies for autism and other neurodevelopmental disorders. The results of this research will be published in Molecular Psychiatry on Monday May 2, 2022.

Research background

Autism spectrum disorder is a developmental neurological disorder that remains largely unexplored despite the rapidly increasing number of patients. Immune abnormalities, now considered the cause of many diseases, also play an important role in the development of autism. Brain inflammation and disturbances of the peripheral immune system are frequently observed in autistic patients. Furthermore, immune abnormalities are accompanied by abnormalities in the intestinal microbiota, which is also thought to be involved in the pathogenesis of the disease via the brain-gut axis. However, the essential mechanisms behind these immune abnormalities have yet to be elucidated.

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