Elucidation of the interaction mechanism between environmental and genetic factors in the development of cleft palate, a multifactorial disease.

2023 Fiscal Year Final Research Report

• Project/Area Number: 22K21013
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Multi-year Fund
• Review Section: 0907:Oral science and related fields
• Research Institution: Osaka University
• Principal Investigator: HIROSE TAKUMI 大阪大学, 歯学部附属病院, 医員 (60965276)
• Project Period (FY): 2022-08-31 – 2024-03-31
• Keywords: 口蓋裂 / 多因子疾患 / 環境因子

Outline of Final Research Achievements

Despite the fact that cleft palate is considered to be a multifactorial disease caused by the interaction of multiple genetic and environmental factors that cross a threshold, the mechanism of cleft palate remains unclear. In this study, we focused on dexamethasone (DEX), an environmental factor in cleft palate, and p63, a genetic factor, to elucidate their interaction. We found that the incidence of cleft palate was significantly lower when DEX was administered to p63 knockout mice than when DEX was administered to wild-type mice. In addition, folic acid treatment restored DEX-induced cleft palate fusion defects, suggesting that the mechanism may be that folic acid inhibits DEX-induced inhibition of p63 loss.

Free Research Field

歯科矯正学

Academic Significance and Societal Importance of the Research Achievements

口蓋裂は多因子疾患であると考えられているにもかかわらず、実際に環境因子と遺伝因子の相互作用のメカニズムは明らかになっていない。このことに焦点を当てるという点で学術的意義がある。環境因子と遺伝因子の相互作用のメカニズムが解明されることで今後の多因子疾患に対する新たな診断方法の確立や予防・治療法の開発の糸口となることが期待できるという点で社会的意義を有している。