GLP-1受体激动剂在WFS1谱系障碍中的应用前景

Eleonora Panfili, Giulio Frontino, Maria Teresa Pallotta
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引用次数: 0

摘要

WFS1谱系障碍(WFS1- sd)是一种罕见的单基因神经退行性疾病,其主要症状为儿童期发病的糖尿病、视神经萎缩、耳聋、尿崩症和轻至重度的神经症状。预后很差,因为大多数患者因严重的神经功能障碍如球功能障碍和器质性脑综合征而过早死亡。WFS1基因的突变被认为是该疾病的原动力,并负责内质网应激信号失调,导致神经元和胰腺β细胞死亡。目前还没有治愈方法,也没有确切阻止疾病进展的治疗方法。GLP-1受体激动剂似乎是体外和体内降低内质网应激升高的有效方法,越来越多的研究结果表明它们可能有效延缓WFS1-SD的进展。在这里,我们总结GLP-1受体激动剂的特点,以及通过在WFS1-SD中测试获得的临床前和临床数据,作为治疗该疾病的可行策略。
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GLP-1 receptor agonists as promising disease-modifying agents in WFS1 spectrum disorder.

WFS1 spectrum disorder (WFS1-SD) is a rare monogenic neurodegenerative disorder whose cardinal symptoms are childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological signs ranging from mild to severe. The prognosis is poor as most patients die prematurely with severe neurological disabilities such as bulbar dysfunction and organic brain syndrome. Mutation of the WFS1 gene is recognized as the prime mover of the disease and responsible for a dysregulated ER stress signaling, which leads to neuron and pancreatic β-cell death. There is no currently cure and no treatment that definitively arrests the progression of the disease. GLP-1 receptor agonists appear to be an efficient way to reduce elevated ER stress in vitro and in vivo, and increasing findings suggest they could be effective in delaying the progression of WFS1-SD. Here, we summarize the characteristics of GLP-1 receptor agonists and preclinical and clinical data obtained by testing them in WFS1-SD as a feasible strategy for managing this disease.

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