Molecular pathogenesis of human disorders associated with deficiencies in the DNA repair and environmental stress response systems

2023 Fiscal Year Final Research Report

• Project/Area Number: 20H00629
• Research Category: Grant-in-Aid for Scientific Research (A)
• Allocation Type: Single-year Grants
• Section: 一般
• Review Section: Medium-sized Section 63:Environmental analyses and evaluation and related fields
• Research Institution: Nagoya University
• Principal Investigator: OGI Tomoo 名古屋大学, 環境医学研究所, 教授 (80508317)
• Co-Investigator(Kenkyū-buntansha): 光武 範吏 長崎大学, 原爆後障害医療研究所, 教授 (50404215) ; 真下 知士 東京大学, 医科学研究所, 教授 (80397554)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: 環境ストレス・環境変異原 / DNA修復・転写共役修復 / ゲノムインスタビリティ / DNA修復欠損性疾患 / がん・老化関連疾患

Outline of Final Research Achievements

We studied the mechanisms by which organisms maintain proper regulation of gene expression and genomic stability in response to various types of endogenous and exogenous stresses. This research focused on understanding the 'environmental stress response / repair systems' and elucidating the pathogenesis of human disorders that arise from their dysfunction. We studied the pathogenesis of AMeD syndrome, a previously unclassified genetic disorder characterized by aplastic anemia, mental retardation, and dwarfism. Our findings reveal the mechanisms underlying the development of AMeD syndrome and the abnormalities in the environmental stress response associated with this condition.

Free Research Field

人類遺伝学、分子生物学、DNA修復学

Academic Significance and Societal Importance of the Research Achievements

環境ストレス応答・ゲノム修復システムの分子メカニズムの理解や、これらの破綻によって発症するヒト遺伝性疾患の病態解明を行い、遺伝子発現の制御機構やゲノムの安定性維持に関連する様々な科学的知見を蓄積することで、関係する遺伝性疾患だけでなく、ゲノムの不安定化が関与する、がん、老化、代謝異常などの、より一般的な疾患についても、将来的な治療法・予防法開発につながってゆくと期待される。