Comparison of GLA variants of unknown significance and the specific mutations causing moderate Fabry disease
| Project/Area Number |
18K15071
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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 49010:Pathological biochemistry-related
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| Research Institution | Meiji Pharmaceutical University |
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Principal Investigator |
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| Project Period (FY) |
2018-04-01 – 2022-03-31
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| Project Status |
Completed (Fiscal Year 2021)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2019: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2018: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | ライソゾーム病 / 遺伝子変異 / 臨床表現型 |
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| Outline of Final Research Achievements |
Fabry disease is caused by mutation of GLA gene, leading to deficiency of α-galactosidase A activity. In this study, we compared functional polymorphisms with mutations leading to later-onset Fabry disease. The stability of GLA proteins of functional polymorphism was more stable than those of mutation with later-onset at neutral pH condition.
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| Academic Significance and Societal Importance of the Research Achievements |
ファブリー病の診断において、新しいGLA遺伝子変異が見つかった場合、それが病気を引き起こす遺伝子変異であるか否かの判断が難しいことがあり、臨床現場で問題となっています。今回の研究成果は、ファブリー病のメカニズムの一部を明らかにしたとともに、新しい遺伝子変異が見つかった場合に病気を引き起こす遺伝子変異であるか判断するための有益な参考情報になると考えられます。
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Report
(5 results)
Research Products
(26 results)
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[Journal Article] Effectiveness of immunosuppressive therapy for nephrotic syndrome in a patient with late-onset Fabry disease: a case report and literature review.2019
Author(s)
Fujisawa H, Nakayama Y, Nakao S, Yamamoto R, Kurokawa Y, Nakamura N, Nagata A, Tsukimura T, Togawa T, Sakuraba H, Fukami K.
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Journal Title
BMC Nephrol
Volume: 20
Issue: 1
Pages: 469-469
DOI
Related Report
Peer Reviewed / Open Access
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