胎児期からの酵素補充療法は重症型低フォスファターゼ症マウスの顎顔面領域の石灰化不全を改善する

• Published in: 日本薬理学会年会要旨集 p. 3-B-P-050
• Main Authors: 石束, 叡, 吉田, 香織, 髙橋, 有希, 長谷川, 瑛洋, 梅澤, 明弘, 小鹿, 恭太郎, 一戸, 達也, 笠原, 正貴
• Format: Journal Article
• Language: Japanese
• Published: 公益社団法人 日本薬理学会 2023
• Subjects: bone
• ISSN: 2435-4953
• DOI: 10.1254/jpssuppl.97.0_3-B-P-050

Hypophosphatasia (HPP) is a congenital disease caused by a deficiency of tissue-nonspecific alkaline phosphatase (TNALP) gene. The pathogenesis of HPP varies, ranging from severe cases resulting in no fetal bone calcification to relatively mild cases. In recent years, the establishment of enzyme supplementation as a treatment method has prolonged survival in patients. However, the effects of enzyme therapy on the jawbone and periodontal tissues have not yet been studied in detail. Therefore, in this study, we investigated the therapeutic effects of enzyme replacement therapy on jawbone in mice. Recombinant TNALP was administered to mothers before birth and newborns immediately after birth, with the effect of treatment being evaluated. The treated HPP mice had improved mandibular bone quality and tooth quality (root length of mandibular first molar, formation of cementum), as well as improved periodontal ligament structure. Furthermore, prenatal treatment had an additional therapeutic effect on the degree of mandible and enamel calcification. These results suggest that enzyme replacement therapy is effective for the treatment of HPP, specifically in the maxillofacial region, and that early initiation of treatment may have additional beneficial therapeutic effects.