2023 Fiscal Year Final Research Report
Digging up athletes affected by familial acromegaly. - Interdisciplinary approach towards the identification of a new generesponsible genegene
| Project/Area Number |
20K11402
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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 59020:Sports sciences-related
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| Research Institution | Aichi Medical University |
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Principal Investigator |
Morita Hiroyuki 愛知医科大学, 愛知医科大学, 客員教授 (00311994)
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| Co-Investigator(Kenkyū-buntansha) |
平瀬 翔 愛知医科大学, 医学部, 助教 (30762653)
田邉 昇 大阪医科薬科大学, 医学部, 非常勤講師 (40839495)
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| Project Period (FY) |
2020-04-01 – 2024-03-31
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| Keywords | 先端巨大症 / 遺伝疾患 / 原因遺伝子 |
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| Outline of Final Research Achievements |
Molecular biologic analysis of genomic DNA in a rare genetic disease enables us to identify a responsible gene, and its molecular mechanism. Study of familial acromegaly we attempted to conduct is capable of identifying a gene responsible for increasing certain athletic ability/function. In the world, however, prejudice still exists against genetic diseases that will give an unreasonable disadvantage in the contract of a professional athlete. This situation resulted in refusal of donating blood sample in some family members. One member who is over 85 years of age, understood importance of this study and donated blood sample. He certainly agreed to our opinion that understanding molecular mechanism enhancing athletic function will contribute to the world. In the future, where prejudices is largely broken down, and unreasonable disadvantages in the contract disappears, someone can continue this study.
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| Free Research Field |
内分泌・代謝内科領域の臨床医学
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| Academic Significance and Societal Importance of the Research Achievements |
結論として、本研究は計画通りに進まなかった。主な理由はゲノムDNA供与を拒否した家系構成医員は本研究の趣旨そのものには同意したが、世間から遺伝疾患罹患者故の偏見に晒され職業契約上不利になる可能性を懸念したからであった。失敗からの学びは「この種の研究は個人と個人の同意のみならず個人と社会の関わりに対する周到な配慮と緻密な対策が必須」であった。一方このような状況下で後期高齢者の疾患罹患家系構成員は、将来偏見が弱まり上述の懸念も解消され研究が可能となる時の招来を信じ、ゲノムDNAを供給してくれた。草の根レベルで科学研究に対して前向きな姿勢を示された点は貴い。
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