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半乳糖凝集素-3:Ⅲ型糖原贮积病的一种新型生物标志物。

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

作者信息

Rossiaud Lucille, Miagoux Quentin, Benabides Manon, Reiss Océane, Jauze Louisa, Jarrige Margot, Polvèche Hélène, Malfatti Edoardo, Laforêt Pascal, Ronzitti Giuseppe, Nissan Xavier, Hoch Lucile

机构信息

Université Paris-Saclay, Université d'Evry, Inserm, IStem, UMR861, Corbeil-Essonnes, France.

IStem, CECS, Corbeil-Essonnes, France.

出版信息

Cell Death Discov. 2025 Apr 14;11(1):173. doi: 10.1038/s41420-025-02452-6.

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/afef/11997124/d41d40ee92ef/41420_2025_2452_Fig1_HTML.jpg

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