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