Rossiaud Lucille, Miagoux Quentin, Benabides Manon, Reiss Océane, Jauze Louisa, Jarrige Margot, Polvèche Hélène, Malfatti Edoardo, Laforêt Pascal, Ronzitti Giuseppe, Nissan Xavier, Hoch Lucile
Université Paris-Saclay, Université d'Evry, Inserm, IStem, UMR861, Corbeil-Essonnes, France.
IStem, CECS, Corbeil-Essonnes, France.
Cell Death Discov. 2025 Apr 14;11(1):173. doi: 10.1038/s41420-025-02452-6.
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.
III型糖原贮积病(GSDIII)是一种罕见的遗传性疾病,会导致肝脏和骨骼肌中糖原异常贮积。在本研究中,我们对几种体外和体内模型进行了比较基因表达分析,并确定半乳凝素-3为该疾病的潜在生物标志物。有趣的是,我们还观察到接受腺相关病毒基因治疗的小鼠中半乳凝素-3表达显著降低。最后,我们在GSDIII患者的肌肉活检样本中研究了半乳凝素-3的表达,证实其在患者组织中有所增加。除了鉴定出这种新型生物标志物外,我们的研究还为未来的治疗发展提供了新的视角。