2018 Fiscal Year Final Research Report
Uncovering the missing link in molecular mechanisms regulating female reproductive function
| Project/Area Number |
16K08603
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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 |
General medical chemistry
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| Research Institution | National Center for Child Health and Development |
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Principal Investigator |
Miyado Mami 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)
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Keywords | 生殖機能 / 卵巣ステロイド / MAMLD1 / NR5A1 / 非古典的男性ホルモン / CD9 |
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| Outline of Final Research Achievements |
In order to identify missing pieces hidden in already known mechanisms of female reproductive function, we performed this study using a set of disease model animals and samples obtained from patients. Subsequently, we obtained remarkable results as followings: (1) Pituitary hormone regulates the Mamld1 expression in the mouse ovary; (2) The p.R92W variant of NR5A1/Nr5a1 induces testis formation specifically in women; (3) 11-oxygenated C19 steroids are clinically important as circulating androgens in patients with polycystic ovarian syndrome; (4) Autophagy-disrupted LC3 abundance worsens the oocyte quality with age; and (5) CD9 functions in regenerating the uterine epithelium.
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| Free Research Field |
分子生物学
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| Academic Significance and Societal Importance of the Research Achievements |
本研究では、遺伝子機能の変化やホルモンバランスの変化が雌性生殖機能に与える影響を明らかにした。さらに、モデル動物と疾患患者の解析を行うことで、生物種間における雌性生殖機能に与える影響の共通性と多様性を見出した。本研究の意義として、単一遺伝子の機能低下により引き起こされる疾患発症機序の解明が挙げられる。本研究の成果は、性分化疾患や不妊症などの内分泌関連疾患の発症機序の解明に結び付くことが期待される。
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