2022 Fiscal Year Final Research Report
Induction of osteoclast differentiation of Hajdu Cheney Syndrome specific iPS cells.
| Project/Area Number |
20K10170
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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 57060:Surgical dentistry-related
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| Research Institution | Tokyo Dental College |
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Principal Investigator |
Aida Natsuko 東京歯科大学, 歯学部, 講師 (90615379)
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| Co-Investigator(Kenkyū-buntansha) |
東 俊文 東京歯科大学, 歯学部, 教授 (00222612)
中村 貴 東京歯科大学, 歯学部, 講師 (80431948)
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| Project Period (FY) |
2020-04-01 – 2023-03-31
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| Keywords | Hajdu-Cheney 症候群 / iPS細胞 / 破骨細胞 / 遺伝子解析 |
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| Outline of Final Research Achievements |
Hajdu-Cheney syndrome is a rare autosomal manifestation of a congenital bone disorder characterized by severe osteoporosis and skull deformity. Dental manifestations include abnormal periodontal tissue eruption and severe periodontal disease, which significantly affects the patient's quality of life. However, the clinical manifestations of the disease vary widely, and it is often difficult to diagnose the disease based on patient symptoms alone. To search for the pathogenic mechanism of this disease, we have succeeded in establishing patient-derived iPS cells and have confirmed mutations in exome 34, the PEST sequence portion of the Notch2 gene. Furthermore, we induced macrophages and confirmed that osteoclast differentiation was enhanced when compared to control iPS cells.
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| Free Research Field |
生化学
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| Academic Significance and Societal Importance of the Research Achievements |
Hajdu-Cheney症候群は、未節骨の骨吸収や進行性の骨破壊を起こし、重度の骨粗鬆症、頭蓋骨変形を主病態とする稀な常染色体顕性遺伝子疾患である。歯科領域では、重度な歯周病、歯の早期喪失を認め、患者のQOLに大きく影響を及ぼす。疾患特異的iPS細胞を樹立し、発症メカニズムを検索することは、現在も確立した治療法のない本疾患に対する有効薬剤を同定し治療開発に結びつけることが可能となる。また、破骨細胞への分化亢進など骨リモデリングの異常をきたすことから、近年社会的問題になっている高齢者の骨粗鬆症の治療にも関与することとなる。従って、本疾患のみならず、新たな骨粗鬆症治療法の開発に重要となる。
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