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沃尔弗拉姆综合征疾病模型的综合概述:迈向有效治疗。

Comprehensive overview of disease models for Wolfram syndrome: toward effective treatments.

机构信息

Department of Pediatrics, Hokkaido University Hospital, North 14, West 5, Kita-ku, Sapporo, 060-8638, Japan.

Division of Endocrinology, Metabolism, Haematological Science and Therapeutics, Yamaguchi University Graduate School of Medicine, Ube, Japan.

出版信息

Mamm Genome. 2024 Mar;35(1):1-12. doi: 10.1007/s00335-023-10028-x. Epub 2024 Feb 13.

DOI:10.1007/s00335-023-10028-x
PMID:38351344
Abstract

Wolfram syndrome (OMIM 222300) is a rare autosomal recessive disease with a devastating array of symptoms, including diabetes mellitus, optic nerve atrophy, diabetes insipidus, hearing loss, and neurological dysfunction. The discovery of the causative gene, WFS1, has propelled research on this disease. However, a comprehensive understanding of the function of WFS1 remains unknown, making the development of effective treatment a pressing challenge. To bridge these knowledge gaps, disease models for Wolfram syndrome are indispensable, and understanding the characteristics of each model is critical. This review will provide a summary of the current knowledge regarding WFS1 function and offer a comprehensive overview of established disease models for Wolfram syndrome, covering animal models such as mice, rats, flies, and zebrafish, along with induced pluripotent stem cell (iPSC)-derived human cellular models. These models replicate key aspects of Wolfram syndrome, contributing to a deeper understanding of its pathogenesis and providing a platform for discovering potential therapeutic approaches.

摘要

Wolfram 综合征(OMIM 222300)是一种罕见的常染色体隐性遗传病,具有多种破坏性症状,包括糖尿病、视神经萎缩、尿崩症、听力损失和神经功能障碍。致病基因 WFS1 的发现推动了对该病的研究。然而,对 WFS1 功能的全面了解仍然未知,因此开发有效的治疗方法迫在眉睫。为了弥补这些知识空白,Wolfram 综合征的疾病模型是不可或缺的,了解每种模型的特点至关重要。本文将总结目前关于 WFS1 功能的知识,并全面概述 Wolfram 综合征的现有疾病模型,包括小鼠、大鼠、果蝇和斑马鱼等动物模型,以及诱导多能干细胞(iPSC)衍生的人类细胞模型。这些模型复制了 Wolfram 综合征的关键方面,有助于深入了解其发病机制,并为发现潜在的治疗方法提供了一个平台。

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本文引用的文献

1
Wfs1 knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production.Wfs1 敲入小鼠阐明了 Wfs1 在耳蜗内电位产生中的基本作用。
Cell Death Dis. 2023 Jun 29;14(6):387. doi: 10.1038/s41419-023-05912-y.
2
GLP-1 receptor agonists as promising disease-modifying agents in WFS1 spectrum disorder.胰高血糖素样肽-1受体激动剂作为沃夫综合征1型谱系障碍中有前景的疾病修饰药物。
Front Clin Diabetes Healthc. 2023 Jun 2;4:1171091. doi: 10.3389/fcdhc.2023.1171091. eCollection 2023.
3
GLP-1R agonists demonstrate potential to treat Wolfram syndrome in human preclinical models.
孤立性和综合征性遗传性视神经病变:遗传与表型异质性综述
Int J Mol Sci. 2025 Apr 20;26(8):3892. doi: 10.3390/ijms26083892.
4
Wolfram syndrome 2 gene (CISD2) deficiency disrupts Ca-mediated insulin secretion in β-cells.沃夫勒姆综合征2型基因(CISD2)缺陷会破坏β细胞中钙介导的胰岛素分泌。
Mol Metab. 2025 Jun;96:102140. doi: 10.1016/j.molmet.2025.102140. Epub 2025 Apr 4.
5
Insights on the Genetic and Phenotypic Complexities of Optic Neuropathies.视神经病变的遗传与表型复杂性洞察
Genes (Basel). 2024 Nov 29;15(12):1559. doi: 10.3390/genes15121559.
6
The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy.众多常染色体显性疾病中 ER 滞留和显性负效应的双重打击:在疾病机制和治疗中的意义。
J Biomed Sci. 2024 Jun 27;31(1):64. doi: 10.1186/s12929-024-01054-1.
GLP-1R 激动剂在人类临床前模型中显示出治疗 WOLFRAM 综合征的潜力。
Diabetologia. 2023 Jul;66(7):1306-1321. doi: 10.1007/s00125-023-05905-8. Epub 2023 Mar 30.
4
Multidimensional analysis and therapeutic development using patient iPSC-derived disease models of Wolfram syndrome.使用威拉母氏症患者诱导多能干细胞衍生疾病模型进行多维分析和治疗开发。
JCI Insight. 2022 Sep 22;7(18):e156549. doi: 10.1172/jci.insight.156549.
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Front Endocrinol (Lausanne). 2022 Mar 25;13:849204. doi: 10.3389/fendo.2022.849204. eCollection 2022.
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Am J Hum Genet. 2021 Nov 4;108(11):2171-2185. doi: 10.1016/j.ajhg.2021.10.001. Epub 2021 Oct 25.