Elucidation of the pathogenic mechanism of congenital urethral anomaly by comprehensive genetic and endocrine analysis
| Project/Area Number |
17K11194
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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 |
Urology
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| Research Institution | Jichi Medical University (2018-2020)
National Center for Child Health and Development (2017) |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
宮戸 真美 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, 上級研究員 (00386252)
五十嵐 麻希 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, (非)研究員 (10623035)
中井 秀郎 自治医科大学, 医学部, 教授 (50167540)
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| Project Period (FY) |
2017-04-01 – 2021-03-31
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| Project Status |
Completed (Fiscal Year 2020)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2018: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2017: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 先天性尿道形成異常症 / 尿道下裂 / 無精子症 / 先天性尿道形成異常 / 停留精巣 / 遺伝学 / 人類学 / ゲノム / 遺伝子 / 分析科学 |
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| Outline of Final Research Achievements |
Male genital abnormalities, including azoospermia, testicular cancer, hypospadias, and cryptorchidism, are caused by decreased androgen action due to testicular disorders during the embryonic period and are called Testicular Dysgenesis Syndrome (TDS). This study revealed for the first time the frequency of known causative gene mutations and chromosomal structural changes in patients with azoospermia. In addition, new causative gene in patient with azoospermia was discovered in this study.
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| Academic Significance and Societal Importance of the Research Achievements |
先天性尿道形成異常症の尿道下裂は停留精巣を合併することが多い。停留精巣は精子形成異常を呈することが知られている。精子形成異常を呈する男性不妊症（無精子症・乏精子症）患者の原因遺伝子を解析することは尿道下裂の新規原因遺伝子の発見に繋がる。この研究で無精子症の新規原因遺伝子を発見できたことは患者の診療成績向上に直接貢献するだけでなく、ヒト生殖の分子的基盤の理解に役立つため意義が大きい。
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Report
(5 results)
Research Products
(51 results)
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[Journal Article] Extra-mitochondrial citrate synthase initiates calcium oscillation and suppresses age-dependent sperm dysfunction.2020
Author(s)
Kang W, Harada Y, Yamatoya K, Kawano N, Kanai S, Miyamoto Y, Nakamura A, Miyado M, Hayashi Y, Kuroki Y, Saito H, Iwao Y, Umezawa A and Miyado K.
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Journal Title
Lab Invest.
Volume: 100
Issue: 4
Pages: 665-665
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] STX2 is a causative gene for nonobstructive azoospermia.2018
Author(s)
Nakamura S, Kobori Y, Ueda Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito K, Nakamura A, Ogata T, Okada H, Nakai H, Miyado M and Fukami M.
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Journal Title
Hum Mutat. (in press)
Volume: 印刷中
Issue: 6
Pages: 0-0
DOI
Related Report
Peer Reviewed
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[Journal Article] MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.2018
Author(s)
Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, Ishii T, Haruna H, Igarashi M, Kon M, Fukuzawa R, Tanaka Y, Fukami M, Hasegawa T, Narumi S.
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Journal Title
PLoS One.
Volume: 13
Issue: 11
Pages: e0206184-e0206184
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations.2017
Author(s)
Nakamura S, Miyado M, Saito M, Katsumi M, Nakamura A, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Okada H, Hata K, Nakabayashi K, Okamura K, Ogata H, Matsubara Y, Ogata T, Nakai H and Fukami M.
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Journal Title
Andrology.
Volume: 5
Issue: 4
Pages: 824-831
DOI
Related Report
Peer Reviewed
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[Journal Article] Top-down approach is possible strategy for predicting breakthrough fUTIs and renal scars in infants.2017
Author(s)
Kawai S, Kanai T, Hyuga T, Nakamura S, Aoyagi J, Ito T, Saito T, Odaka J, Furukawa R, Aihara T, Nakai H.
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Journal Title
Pediatr Int.
Volume: 59
Issue: 7
Pages: 781-785
DOI
Related Report
Peer Reviewed
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