| Project/Area Number |
17K10091
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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 |
Pediatrics
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| Research Institution | National Center for Child Health and Development |
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Principal Investigator |
KATSUMATA NORIYUKI 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 研究員 (10260340)
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| Project Period (FY) |
2017-04-01 – 2022-03-31
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| Project Status |
Completed (Fiscal Year 2021)
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| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 先天性副腎低形成症 / 先天性ACTH不応症 / ミトコンドリア電子伝達系 / NNT遺伝子 / GSR遺伝子 / GPX4遺伝子 / RNA-Seq / CLPP遺伝子 / 遺伝学 / 分子内分泌学 |
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| Outline of Final Research Achievements |
We hypothesized that abnormalities in the mitochondrial glutathione system might cause adrenal hypoplasia congenital (AHC) or familial isolated glucocorticoid deficiency (FIGD), and analyzed the GSR and GPX4 genes in AHC and FIGD patients with unknown etiology. However, we found no pathological variants in these genes. Then, we performed RNA-Seq analyses in lymphoblastoid cells from a patient with FIGD caused by the NNT gene mutations and her mother, and identified the CLPP gene at upstream of NTT. We considered CLPP a novel candidate gene causing AHC or FIGD, and analyzed it in AHC and FIGD patients with unknown etiology. However, we found no pathological variants in the gene.
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| Academic Significance and Societal Importance of the Research Achievements |
責任遺伝子が同定されていない先天性副腎低形成症/ACTH不応症の家系で、GSR遺伝子、GPX4遺伝子およびCLPP遺伝子を新規原因遺伝子候補として解析したが、病的バリアントは認められなかった。したがって、先天性副腎低形成症/ACTH不応症には、依然として未知の責任遺伝子が存在し、今後更なる検索が必要であると考えられる。
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