Development of in vivo knockdown treatment for PEG11 in Kagami-Ogata syndrome

2020 Fiscal Year Final Research Report

• Project/Area Number: 19K23744
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Multi-year Fund
• Review Section: 0702:Biology at cellular to organismal levels, and related fields
• Research Institution: Tokyo Medical and Dental University
• Principal Investigator: KITAZAWA Moe 東京医科歯科大学, 難治疾患研究所, 助教 (40801965)
• Project Period (FY): 2019-08-30 – 2021-03-31
• Keywords: Peg11 / Rtl1 / 真獣類特異的遺伝子 / 骨格筋 / 脳 / ゲノムインプリンティング疾患 / ヒト14番染色体二倍体症候群

Outline of Final Research Achievements

The paternal expressed imprinted gene, Peg11/Rtl1, is a eutherian-specific gene and is known to cause disease due to abnormal expression. In addition to previous reports that it is essential for the maintenance of placental fetal capillaries, it has been clarified that it is important for differential and strengthening of skeletal muscle and that it is expressed in the corpus callosum, which is a eutherian -specific part of the brain. Moreover, to administered Peg11 siRNA to mouse fetus, it showed Peg11 deficiency-like symptoms, confirming that siRNA is effective for the treatment of Kagami-Ogata syndrome.

Free Research Field

発生生物学、分子生物学

Academic Significance and Societal Importance of the Research Achievements

Peg11の欠損あるいは過剰発現はそれぞれTemple症候群およびKagami-Ogata症候群の主な原因であることから、Peg11の機能解析を行うことは両疾患の病態解明に貢献でき、疾患の新規治療法に繋がることが期待できる。また、Peg11は真獣類特異的遺伝子でもあるため、私たちヒトを含む真獣類の進化の過程を探ることにも貢献できると考えられる。