2020 Fiscal Year Final Research Report
Elucidation of pathophysiology of congenital factor XII deficiency in cat for the development of novel antithrombotic therapy
| Project/Area Number |
18K06004
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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 42020:Veterinary medical science-related
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| Research Institution | Nihon University |
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Principal Investigator |
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Keywords | ネコ / 第XII因子欠乏症 |
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| Outline of Final Research Achievements |
F12 gene analysis was performed on 10 cats with factor XII (FXII) deficiency. As a result, it was clarified that p.G544A was most frequently observed in FXII deficiency in Japan. Furthermore, it was suggested that two types of gene mutations, which were previously thought to have no effect on FXII activity, affect a mild decrease in FXII activity. We also identified one novel gene mutation.
A Cycleave PCR method using a real-time PCR device was established for the rapid diagnosis of the p.G544A mutation, which occurs most frequently in Japan. As a result of examining the state of possession of this gene mutation in cats visiting Nihon University Animal Hospital, the frequency of alleles was 0.09.
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| Free Research Field |
獣医血液病学
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| Academic Significance and Societal Importance of the Research Achievements |
第XII因子（FXII）は血液凝固因子の1つであるが、その欠乏症では観血的処置などでも異常出血を呈さない。近年、医学領域ではFXIIが血栓形成や炎症を調整していることが明らかとなり、FXIIを阻害することで出血傾向を呈さない新規抗凝固薬のターゲットとして注目されている。先天性FXII欠乏症は猫では比較的よく遭遇する疾患である。また、止血スクリーニング検査ではFXII欠乏症は血友病と同じ結果を呈することからその鑑別には遺伝子検査が有用であると考える。そのため、本研究で得られた猫のFXII欠乏症の病態解析としての遺伝子解析結果および迅速かつ簡便な遺伝子診断法の確立は、臨床獣医学の発展に寄与する。
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