Development of novel diagnostic method for refractory pediatric liver diseases
| Project/Area Number |
18K19391
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| Research Category |
Grant-in-Aid for Challenging Research (Exploratory)
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| Allocation Type | Multi-year Fund |
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| Review Section |
Medium-sized Section 47:Pharmaceutical sciences and related fields
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| Research Institution | The University of Tokyo |
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Principal Investigator |
Hayashi Hisamitsu 東京大学, 大学院薬学系研究科(薬学部), 助教 (10451858)
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| Project Period (FY) |
2018-06-29 – 2021-03-31
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| Project Status |
Completed (Fiscal Year 2020)
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| Budget Amount *help |
¥6,240,000 (Direct Cost: ¥4,800,000、Indirect Cost: ¥1,440,000)
Fiscal Year 2019: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
Fiscal Year 2018: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
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| Keywords | 小児遺伝性肝疾患 / 診断 / マクロファージ / 表現型解析 / 小児肝臓病 / 診断法 / 遺伝性疾患 / 難病 / 血球細胞 |
|---|
| Outline of Final Research Achievements |
In the pediatric hereditary liver diseases, a definitive diagnosis of each disease is made by clinical findings followed by genomic analysis. However, there are some cases in which it is difficult to distinguish from similar diseases due to inability to identify the mutation or to distinguish between the pathogenic mutation and the rare normal variant. In order to solve this situation, this study developed a diagnostic method based on gene function analysis. Peripheral blood monocytes from the patients were differentiated into macrophages and subjected to various analysis. Abnormal phenotypes that could contribute to discriminate the pediatric hereditary liver diseases was identified.
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| Academic Significance and Societal Importance of the Research Achievements |
小児遺伝性肝疾患群では、臨床診断の後、遺伝子検査を経て確定診断に至ります。しかしながら変異を同定できない、あるいは病因変異とrare normal variantの区別が出来ない等の理由により、遺伝子検査では類似疾患との鑑別に難渋し、確定診断に至らない症例が散見されます。本研究では、当該疾患患児の末梢血単球を活用し、疾患鑑別に資する複数の表現型異常を同定しました。
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Report
(4 results)
Research Products
(18 results)
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[Journal Article] Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte‐Derived Macrophages2020
Author(s)
Mizutani A, Sabu Y, Naoi S, Ito S, Nakano S, Minowa K, Mizuochi T, Ito K, Abukawa D, Kaji S, Sasaki M, Muroya K, Azuma Y, Watanabe S, Oya Y, Inomata Y, Fukuda A, Kasahara M, Inui A, Takikawa H, Kusuhara H, Bessho K, Suzuki M, Togawa T, Hayashi H.
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Journal Title
Hepatology Communications
Volume: 5
Issue: 1
Pages: 52-62
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Effect of food on the pharmacokinetics and therapeutic efficacy of 4-phenylbutyrate in progressive familial intrahepatic cholestasis2019
Author(s)
Nakano S, Osaka S, Sabu Y, Minowa K, Hirai S, Kondou H, Kimura T, Azuma Y, Watanabe S, Inui A, Bessho K, Nakamura H, Kusano H, Nakazawa A, Tanikawa K, Kage M, Shimizu T, Kusuhara H, Zen Y, Suzuki M, Hayashi H.
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Journal Title
Scientific Reports
Volume: 9
Issue: 1
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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