News Releases & Research Results Elucidation of the molecular mechanism of the gene mutation responsible for impairing brain development and sociality in autism spectrum disorder patients―expectation of development of a therapeutic strategy for the disorder―

The results of collaborative research conducted by Associate Professor Takanobu Nakazawa of Graduate School of Dentistry, Osaka University, Professor Hitoshi Hashimoto of Graduate School of Pharmaceutical Sciences, Osaka University, and Department Director Ryota Hashimoto of National Center of Neurology and Psychiatry.

• With iPS cell lines derived from autism spectrum disorder (ASD) patients having mutations in the associated POGZ (Pogo transposable element with zinc finger domain) gene, and the original mouse models of human disease with the relevant mutations, POGZ mutations were found to be related to the pathogenesis of ASD.
• Based on these research results, drug discovery research targeting the neuronal functions regulated by the POGZ gene may contribute to the development of novel treatment for ASD.
• This research project was conducted with the support of Advanced Research and Development Programs for Medical Innovation (AMED-CREST) by AMED.

The results of this research were published in the online edition of Nature Communications an international academic journal, on February 26.

Matsumura K., et al. Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypesNature Communications
DOI：10.1038/s41467-020-14697-z