2022 Fiscal Year Final Research Report
Identification of somatic mutations in schizophrenia: deep sequencing of a parent-offspring trios
| Project/Area Number |
20K16620
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 52030:Psychiatry-related
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| Research Institution | Niigata University |
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Principal Investigator |
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| Project Period (FY) |
2020-04-01 – 2023-03-31
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| Keywords | 統合失調症 / 分子遺伝学 / 体細胞変異 / 高深度全エクソーム解析 |
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| Outline of Final Research Achievements |
Among the DNA samples collected from 60 families with schizophrenia patients and their parents, we performed high-depth (346±96) whole exome analysis on the DNA samples of schizophrenia patients using a next-generation sequencer (NovaSeq6000). Using the parent's whole exome data (normal depth) as a reference, the patient's whole exome data (high depth and normal depth) were searched for somatic mutations, and 115 somatic mutations were detected. Of these, 28 somatic mutations were subjected to ultra-deep (average depth 79,940) targeted sequencing using a next-generation sequencer. Primers were designed for ultra-deep targeted sequencing of the remaining 87 somatic mutations.
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| Free Research Field |
精神医学分野
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| Academic Significance and Societal Importance of the Research Achievements |
本研究の目的は、統合失調症の発症に大きな効果を持つ体細胞変異を同定し、その病態解明および根本的な治療法開発の分子基盤を得ることである。体細胞変異が精神疾患の病態に関与している可能性が示唆されているが、これまで体細胞変異の検出は困難であった。本研究では、統合失調症患者・両親トリオを用いて、高深度の全エクソーム解析を行い体細胞変異の検索を行った。この研究を発展させ統合失調症の発症に大きな効果を持つ体細胞変異が同定されれば、その病態解明へと結びつけることが可能となる。
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