| Project/Area Number |
18K07890
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Review Section |
Basic Section 52050:Embryonic medicine and pediatrics-related
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| Research Institution | Aichi Medical University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
増田 章男 名古屋大学, 医学系研究科, 准教授 (10343203)
倉橋 宏和 愛知医科大学, 医学部, 講師 (30621817)
早川 昌弘 名古屋大学, 医学部附属病院, 病院教授 (40343206)
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| Project Period (FY) |
2018-04-01 – 2023-03-31
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| Project Status |
Completed (Fiscal Year 2022)
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| Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2020: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2019: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | MYRF / MERS / 異常言動 / 遺伝子解析 / 可逆性脳梁病変 / MERS－異常言動スペクトラム |
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| Outline of Final Research Achievements |
A common missense mutation in the MYRF gene was identified by whole exome analysis in familial patients with recurrent mild encephalitis/ encephalopathy with reversible splenial lesion (MERS). Whole exome analysis was performed in other patients with MERS, and a novel missense MYRF gene mutation was identified in another patient with recurrent leukoencephalopathy.
Variants in about 700 genes potentially regulated by MYRF have been analyzed in patients with repetitive and/or familial MERS and compared to controls without neurological disorders. In patients with MERS, variants in GFOD1, HEMK1, CDIP1, PCSK6, LGMN and SLC5A11 genes tended to be more common than in controls. No clear conclusions can be reached at present on the association between these gene variants and the development of MERS.
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| Academic Significance and Societal Importance of the Research Achievements |
MERS-異常言動スペクトラムの原因としてMYRF遺伝子の関与が明らかになり、感染を契機に発症する神経症状の分子生物学的な基盤を解明する糸口となることが予想される。MERS症例でMYRFと関連する遺伝子のバリアントが相対的に多いことは、MYRFの関与を間接的に支持する根拠となる。インフルエンザに伴う異常言動は社会的に大きなインパクトを与えたが、我々の研究によって遺伝学的因子の関与が示唆されたことにより、その適切な理解を促すことにつながることが予想される。
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