| Project/Area Number |
18K16064
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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 53050:Dermatology-related
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| Research Institution | Nagasaki University |
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Principal Investigator |
OKUBO Yumi 長崎大学, 医歯薬学総合研究科(医学系), 客員研究員 (10770399)
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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 |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2019: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Fiscal Year 2018: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 皮膚遺伝学 |
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| Outline of Final Research Achievements |
GGCX (γ-glutamyl carboxylase) syndrome is a rare disease, and it shows skin calcification symptoms due to insufficient carboxylation of γ-glutamyl group. In this study, we focused on the anti-calcification molecule fetuin-A to elucidate the skin calcification mechanism in patients with GGCX syndrome.
As a result, fetuin-A was not detected in the supernatant of culture fibroblast obtained from GGCX patients as well as from healthy subjects. Titer of serum fetuin-A in pseudoxanthoma elasticum patient, one of skin calcification diseases, was similar to that in healthy subjects.
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| Academic Significance and Societal Importance of the Research Achievements |
GGCX (γ-glutamyl carboxylase)症候群や弾性線維性仮性黄色腫（pseudoxanthoma elasticum：PXE）は皮膚石灰化をもたらす希少疾患であるが、その石灰化機序は判明しておらず、有効な治療法はない。本研究においては、循環における強力な抗石灰化因子であるfetuin-Aに着目して検討を行った。難治性皮膚石灰化疾患の理解・治療方法創出への足がかりとなることを期待する。
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