| Project/Area Number |
19K09584
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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 56020:Orthopedics-related
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| Research Institution | Kanazawa Medical University |
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Principal Investigator |
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| Project Period (FY) |
2019-04-01 – 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 2021: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2020: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2019: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 骨軟骨形成 / 白内障 / 脱毛 / 脂質代謝 / 骨・軟骨形成 / 透明化 |
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| Outline of Research at the Start |
コレステロール代謝系遺伝子異常が原因であるX連鎖優性Conradi-Hunermann型点状軟骨異形成症(CDPX2)と極めて類似している全身症状（自然発症型短顔，脊椎湾曲，白内障，脱毛，皮膚の過角化）を示すラットの原因遺伝子，遺伝形式，病態を発生学的に解析し，骨軟骨形成異常とコレステロール合成代謝系との関係を明らかにする。
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| Outline of Final Research Achievements |
We have previously established a strain of rats that exhibits congenital osteochondrodysplasia-related pathologies such as short face and severe curvature of the spine, as well as systemic pathologies such as cataracts, partial alopecia, and hyperkeratosis of the skin. This rat strain is very similar to the X-linked dominant Conradi-Hunermann type of petechial chondrodysplasia, which is caused by mutations in the cholesterol metabolism enzyme gene EBP.
The purpose of this study was to elucidate the etiology and pathogenesis of these rats.
Whole genome analysis revealed no mutation in the Ebp gene on the x sex chromosome between the control and the pathological groups. On the other hand, there were genes with missense mutations on the x chromosome that are thought to be related to lipid metabolism and bone formation.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究で解析したラットは骨軟骨形成異常の病因解明を明らかにする上で非常に有用であると考えられる。さらにこの系統は骨軟骨形成異常のみならず，白内障，皮膚疾患等，広範囲な疾患の病因，病態を研究するうえで重要なモデルとなりうる。
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