2012 Fiscal Year Final Research Report
Evaluation of immune-regulatory functions in auto-inflammatory illnesses
| Project/Area Number |
22591152
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Kanazawa University |
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Principal Investigator |
TOMA Tomoko 金沢大学, 大学病院, 助教 (00377392)
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| Co-Investigator(Kenkyū-buntansha) |
YACHIE Akihiro 金沢大学, 医学系, 教授 (40210281)
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| Project Period (FY) |
2010 – 2012
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| Keywords | 自己炎症疾患 / 家族性地中海熱 / MEFV遺伝子 / pyrin蛋白 |
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| Research Abstract |
Missense variant G304R in the MEFV gene was associated with predominance of aberrant short mRNA, depleting exon 2. This particular mutation not only results in the amino acid replacement, but also led to excessive exon 2 skipping due to enhanced alternative splicing, with subsequent development of familial Mediterranean fever (FMF). In vitro cytokine production by circulating mononuclear cells was examined after LPS stimulation. During the febrile attacks, cytokine production was significantly increased as compared to normal controls. In contrast, it was markedly suppressed during the interval non-febrile periods. The cyclic patterns of cytokine production may be closely related to the periodicity of the febrile episodes of FMF.
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[Journal Article] Familial Mediterranean Fever in Japan2012
Author(s)
Migita K, Uehara R, Nakamura Y, Yasunami M, Tsuchiya-Suzuki A, Yazaki M, Nakamura A, Masumoto J, Yachie A, Furukawa H, Ishibashi H, Ida H, Yamazaki K, Kawakami A, Agematsu K
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Journal Title
Medicine
Volume: 91
Pages: 337-343
DOI
Peer Reviewed
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