Translation of rare missense variants of disease-causing genes into molecular risk mechanisms to clinical phenotypes
| Project/Area Number |
18K15513
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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 | Nagoya University |
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Principal Investigator |
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| Project Period (FY) |
2018-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2019: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2018: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
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| Keywords | ゲノム変異 / 神経発達症 / 遺伝環境相互作用 / 遺伝カウンセリング / 複雑性疾患 / 臨床表現型 / 統合失調症 / 自閉スペクトラム症 / 多因子疾患 / 神経発達障害 / 児童精神医学 / 遺伝学 |
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| Outline of Final Research Achievements |
The development of psychiatric disorders involves the integration of genetic and environmental factors, and it is particularly difficult to disentangle the relationship between phenotypic, genotypic, and environmental factors. Since neurodevelopmental disorders are currently considered to be a predominantly heritable condition, we investigated the impact of rare variants of brain-specific genes on neurodevelopmental disorders. A combination of data through phenotypic assessment of participants with variants, in vivo functional analysis and in silico three-dimensional structural modeling suggests that the detected variants may be associated with a wide range of neurodevelopmental disorder phenotypes beyond the current pathological classification. Further studies are needed to confirm these associations and to elucidate potential mechanisms.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究の学術的意義は，精神疾患の発症や臨床経過に関与する遺伝要因が一義的なものではなく，きわめて複雑であることを裏付けた点である．このことは同時に，精神疾患に対する誤解や偏見を払拭しうる点で社会的意義がある．
精神疾患の原因論は遺伝か環境の二分法に陥りやすい．また，精神疾患の家族歴に関する懸念は多くの患者家族が意識しながらも臨床場面では話題になりにくい．そこで，精神科の臨床場面における遺伝の話題の取り扱いや遺伝カウンセリングの実際について，国内外の学会・学術誌で発表と提案を行った．
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Report
(3 results)
Research Products
(12 results)
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[Journal Article] Generation and analysis of novel Reln-deleted mouse model corresponding to exonic Reln deletion in schizophrenia2020
Author(s)
Masahito Sawahata, Daisuke Mori, Yuko Arioka, Hisako Kubo, Itaru Kushima, Kanako Kitagawa, Akira Sobue, Emiko Shishido, Mariko Sekiguchi, Akiko Kodama, Ryosuke Ikeda, Branko Aleksic, Hiroki Kimura, Kanako Ishizuka, Taku Nagai, Kozo Kaibuchi, Toshitaka Nabeshima, Kiyofumi Yamada, Norio Ozaki
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Journal Title
Psychiatry and clinical neurosciences
Volume: 1
Issue: 5
Pages: 1-10
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Assessment of a glyoxalase I frameshift variant, p.P122fs, in Japanese patients with schizophrenia.2018
Author(s)
Ishizuka K, Kimura H, Kushima I, Inada T, Okahisa Y, Ikeda M, Iwata N, Mori D, Aleksic B, Ozaki N.
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Journal Title
Psychiatr Genet.
Volume: 5
Issue: 5
Pages: 90-93
DOI
Related Report
Peer Reviewed / Open Access
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