Mapping glycogen accumulation and treatment effect in Pompe disease with saturation transfer MRI

IF 5.9 2区医学 Q1 MEDICAL LABORATORY TECHNOLOGY

Translational Research Pub Date : 2026-03-01 Epub Date: 2026-02-18 DOI:10.1016/j.trsl.2026.02.008

Qing Zeng , Yuguo Li , Derek Timm , Tyler Johnson , Nickita Mehta , Lukas Martin , Brian Fox , Peter C.M. van Zijl , Glenn A. Walter , Jens T. Rosenberg , Craig W. Vander Kooi , Manuela Corti , Matthew S. Gentry , Ramon C. Sun , Barry J. Byrne , Nirbhay N. Yadav

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引用次数: 0

Abstract

Pompe disease is a glycogen storage disease caused by the impaired breakdown of glycogen in lysosomes, leading to abnormal glycogen accumulation in tissue. Here we use glycogen nuclear Overhauser effect (glycoNOE) MRI to detect glycogen levels in skeletal muscle in a mouse model of Pompe disease. Moreover, we evaluated if glycoNOE MRI could detect changes in glycogen load after enzyme replacement therapy. The results show that glycoNOE MRI can distinguish between Pompe mice and wildtype controls. Furthermore, the technique detected treatment-dependent changes in muscle glycoNOE signals, which were validated with ex vivo biochemical assays. To demonstrate potential human translation, glycoNOE MRI was applied to two Pompe patients and revealed elevated glycogen levels in patients compared to healthy controls.

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磁共振饱和转移成像检测Pompe病糖原积累及治疗效果。

庞贝病是溶酶体中糖原分解受损，导致组织中糖原异常积聚而引起的糖原蓄积病。在这里，我们使用糖原核Overhauser效应（glycoNOE） MRI检测庞贝病小鼠模型骨骼肌中的糖原水平。此外，我们评估了glycoNOE MRI是否可以检测酶替代治疗后糖原负荷的变化。结果表明，糖conoe MRI可以区分Pompe小鼠和WT对照组。此外，该技术检测了肌肉糖conoe信号的治疗依赖性变化，并通过离体生化分析进行了验证。为了证明潜在的人类翻译，glycoNOE MRI应用于两名Pompe患者，发现与健康对照组相比，患者的糖原水平升高。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Translational Research 医学-医学：内科

CiteScore

15.70

自引率

0.00%

发文量

195

审稿时长

14 days

期刊介绍： Translational Research (formerly The Journal of Laboratory and Clinical Medicine) delivers original investigations in the broad fields of laboratory, clinical, and public health research. Published monthly since 1915, it keeps readers up-to-date on significant biomedical research from all subspecialties of medicine.