Schizophrenia and autism spectrum disorder: from exploring disease-associated rare variants to elucidating molecular pathology

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  • Toyama Miho
    Department of Psychiatry, Nagoya University Graduate School of Medicine
  • Ozaki Norio
    Department of Psychiatry, Nagoya University Graduate School of Medicine

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  • 統合失調症と自閉スペクトラム症発症にかかわるrare variants探索から分子病態解明へ
  • トウゴウ シッチョウショウ ト ジヘイスペクトラムショウ ハッショウ ニ カカワル rare variants タンサク カラ ブンシ ビョウタイ カイメイ エ

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Abstract

As risk factors for schizophrenia and autism spectrum disorder, rare variants with relatively large effect sizes have been highlighted. The growing number of whole-exome sequencing and whole-genome sequencing studies have suggested their common potential pathology including abnormal chromatin remodeling, post-zygotic mutations, dysfunction of immune system and glial cells and dysregulation of microRNA. Although at this point it is unavoidable to choose functionally significant mutations out of numerous variants detected, simultaneously there is a risk to omit potentially important disease-associated mutations. In order to fully utilize those data, it is essential to develop methods to evaluate synergetic effects from mutations detected within an individual. Moreover, accumulating data validated by in vitro and in vivo experiments and applying them into analysis are required.

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