Elucidation of the mechanism by which abnormal sulfate ion metabolism causes chondrodysplasia and search for its treatment

2023 Fiscal Year Final Research Report

• Project/Area Number: 22K21037
• 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: Yoshida Yuka 大阪大学, 歯学部附属病院, 医員 (50966710)
• Project Period (FY): 2022-08-31 – 2024-03-31
• Keywords: 軟骨

Outline of Final Research Achievements

In a mouse cartilage progenitor cell line that has been suggested to be associated with the developmental mechanism of abnormalities in Slc26a2-KO maxillary cartilage morphology and enhanced apoptosis, we confirmed that Slc26a2 knockdown resulted in enhanced apoptosis compared to normal cells.In Slc26a2 knockdown mouse cartilage progenitor cell line significantly enhanced apoptosis compared to the control group, and phosphorylation of S6K and 4EBP1 was enhanced with activation of mTOR. Furthermore, we confirmed that treatment with mTOR inhibitors suppressed apoptosis.

Free Research Field

遺伝学

Academic Significance and Societal Importance of the Research Achievements

Slc26a2の欠失による硫酸イオン代謝（硫酸イオンの細胞内への取り込みとその利用）の異常が、上顎骨の低形成や上顎歯胚に特異的な形成不全等を引き起こすメカニズムを明らかにすることで、軟骨形成不全症における特徴的な顎顔面形態異常の病因を解明し、新しい分子診断や予防・治療法の基盤構築を目指すことができる。