2015 Fiscal Year Final Research Report
Molecular basis of hypophosphatasia
| Project/Area Number |
24592794
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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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| Research Field |
Functional basic dentistry
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| Research Institution | Niigata University |
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Principal Investigator |
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| Project Period (FY) |
2012-04-01 – 2016-03-31
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| Keywords | 低フォスファターゼ症 / 先天性遺伝疾患 / アルカリフォスファターゼ / 発症メカニズム / 石灰化不全 / Ｎ結合糖鎖 |
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| Outline of Final Research Achievements |
Hypophosphatasia (HPP) is an inborn error of metabolism, characterized by hypomineralization of bone and teeth and a deficiency of tissue-nonspecific alkaline phosphatase (TNSALP). To date more than 300 mutations have been reported in the TNSALP gene worldwide. We investigated the effects of 6 independent missense mutations, which were found to be transmitted in a recessive or dominant way, on TNSALP in a molecular level. Our studies have revealed not only the molecular basis of HPP caused by each missense mutation, but also the physiological significance of TNSALP regarding to mineralization.
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| Free Research Field |
生化学
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