2020 Fiscal Year Final Research Report
comprehensively analyze the genomic abnormalities that exist in male infertility
| Project/Area Number |
18K09166
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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 56030:Urology-related
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| Research Institution | Osaka University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
宮川 康 大阪大学, 医学系研究科, 招へい准教授 (70362704)
木内 寛 大阪大学, 医学系研究科, 講師 (70403053)
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Keywords | 男性不妊症 |
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| Outline of Final Research Achievements |
The purpose of this study was to comprehensively analyze the genomic abnormalities that exist in male infertility patients by analyzing all the exons using next-generation sequencers, and to find not only known causative genes but also new causative genes and point mutations for male infertility. We extracted genomes from the blood of 50 patients with azoospermia, the most severe form of male infertility, who had undergone intratesticular sperm extraction and were diagnosed as having maturation arrest by testicular histopathology, and sequenced all exons using a next-generation sequencer. Genetic mutations have been found in cases of maturation arrest, and we are currently analyzing them.
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| Free Research Field |
男性不妊症
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| Academic Significance and Societal Importance of the Research Achievements |
妊娠希望夫婦の1割が不妊に悩み、男性不妊症は原因の半分を占めるにもかかわらず大部分が未だ原因不明であり少子高齢化が進む本邦において原因の解明が強く望まれている。近年DNA解読技術の飛躍的な進歩に従い様々な疾患のゲノム変異を包括的に解析することが可能になり種々の分野で応用されているが男性不妊症の分野ではたち遅れている。本研究ではさらに次世代シーケンサーを用いた全エクソン解析により男性不妊症患者に存在するゲノム異常を網羅的に解析し、既知の原因遺伝子だけでなく新規の男性不妊原因遺伝子や点突然変異を見出す。最終的には新たな男性不妊症診断および新たな治療法の開発に資する結果となると考えられる。
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