Galectin-3: a novel biomarker of glycogen storage disease type III.

ABSTRACT: Glycogen storage disease type III (GSDIII) is a rare genetic disorder leading to abnormal glycogen storage in the liver and skeletal muscle. In this study, we conducted a comparative gene expression analysis of several in vitro and in vivo models and identified galectin-3 as a potential biomarker of the disease. Interestingly, we also observed a significant decrease in galectin-3 expression in mice treated with an AAV gene therapy. Finally, galectin-3 expression was studied in muscle biopsies of GSDIII patients, confirming its increase in patient tissue. Beyond the identification of this novel biomarker, our study offers a new perspective for future therapeutic developments.

SUBMITTER: Rossiaud L 

PROVIDER: S-EPMC11997124 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature