Analysis of the molecular basis of MERS-delirious behavior spectrum
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 |
Section | 一般 |
Review Section |
Basic Section 52050:Embryonic medicine and pediatrics-related
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Research Institution | Aichi Medical University |
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)
|
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 |
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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Report
(6 results)
Research Products
(73 results)
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[Journal Article] Acute encephalopathy with biphasic seizures and late reduced diffusion: Predictive EEG findings2022
Author(s)
Ohno A, Okumura A, Fukasawa T, Nakata T, Suzuki M, Tanaka M, Okai Y, Ito Y, Yamamoto H, Tsuji T, Kidokoro H, Saitoh S, Natsume J.
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Journal Title
Brain Dev
Volume: 44(3)
Issue: 3
Pages: 221-228
DOI
Related Report
Peer Reviewed
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[Journal Article] Usefulness of Q-Probe PCR in Detecting Macrolide-Resistant <i>Mycoplasma pneumoniae</i> Infection in Children2021
Author(s)
Muto T, Nakamura N, Masuda Y, Numoto S, Kodama S, Miyamoto R, Hayakawa T, Mori H, Iwayama H, Kurahashi H, Agata H, Okumura
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Journal Title
Japanese Journal of Infectious Diseases
Volume: 75
Issue: 1
Pages: 89-91
DOI
NAID
ISSN
1344-6304, 1884-2836
Year and Date
2021-01-31
Related Report
Peer Reviewed
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[Journal Article] Acute encephalopathy in children with tuberous sclerosis complex.2021
Author(s)
Numoto S, Kurahashi H, Sato A, Kubota M, Shiihara T, Okanishi T, Tanaka R, Kuki I, Fukuyama T, Kashiwagi M, Ikeno M, Kubota K, Akasaka M, Mimaki M, Okumura
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Journal Title
Orphanet J Rare Dis.
Volume: 16
Issue: 1
Pages: 5-5
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Repetitive sleep starts: An important differential diagnosis of infantile spasms.2021
Author(s)
Maki Y, Kidokoro H, Okumura A, Yamamoto H, Nakata T, Fukasawa T, Kubota T, Kawaguchi M, Suzuki T, Tanaka M, Okai Y, Sakaguchi Y, Ohno A, Negoro T, Takahashi Y, Natsume J.
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Journal Title
Epilepsy Behav.
Volume: 121
Pages: 108075-108075
DOI
Related Report
Peer Reviewed
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[Journal Article] Acute Flaccid Myelitis Collaborative Study I. Clinical Features of Acute Flaccid Myelitis Temporally Associated With an Enterovirus D68 Outbreak: Results of a Nationwide Survey of Acute Flaccid Paralysis in Japan, August-December 20152018
Author(s)
Chong PF, Kira R, Mori H, Okumura A, Torisu H, Yasumoto S, Shimizu H, Fujimoto T, Hanaoka N, Kusunoki S, Takahashi T, Oishi K, Tanaka-Taya K
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Journal Title
Clin Infect Dis
Volume: 66
Issue: 5
Pages: 653-664
DOI
Related Report
Peer Reviewed
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[Journal Article] Survey of rotavirus-associated severe complications in Aichi Prefecture2018
Author(s)
Hattori, F. Kawamura, Y. Kawada, J. I. Kojima, S. Natsume, J. Ito, K. Saito, S. Kitagawa, Y. Okumura, A. Yoshikawa, T.
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Journal Title
Pediatr Int
Volume: 60
Issue: 3
Pages: 259-263
DOI
Related Report
Peer Reviewed
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