沃尔夫拉姆综合征疾病模型综述:迈向有效治疗。

IF 2.7 4区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY Mammalian Genome Pub Date : 2024-03-01 Epub Date: 2024-02-13 DOI:10.1007/s00335-023-10028-x
Shuntaro Morikawa, Katsuya Tanabe, Naoya Kaneko, Nozomi Hishimura, Akie Nakamura
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引用次数: 0

摘要

沃尔夫拉姆综合征(OMIM 222300)是一种罕见的常染色体隐性遗传病,具有一系列破坏性症状,包括糖尿病、视神经萎缩、糖尿病性尿崩症、听力损失和神经功能障碍。致病基因 WFS1 的发现推动了对这种疾病的研究。然而,对 WFS1 功能的全面了解仍然是一个未知数,这使得开发有效的治疗方法成为一个紧迫的挑战。要弥补这些知识差距,沃尔夫拉姆综合征的疾病模型不可或缺,而了解每个模型的特点至关重要。本综述将总结目前有关WFS1功能的知识,并全面概述已建立的沃尔夫拉姆综合征疾病模型,包括小鼠、大鼠、苍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。这些模型复制了沃尔夫拉姆综合征的关键方面,有助于加深对其发病机制的了解,并为发现潜在的治疗方法提供了一个平台。
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Comprehensive overview of disease models for Wolfram syndrome: toward effective treatments.

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.

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来源期刊
Mammalian Genome
Mammalian Genome 生物-生化与分子生物学
CiteScore
4.00
自引率
0.00%
发文量
33
审稿时长
6-12 weeks
期刊介绍: Mammalian Genome focuses on the experimental, theoretical and technical aspects of genetics, genomics, epigenetics and systems biology in mouse, human and other mammalian species, with an emphasis on the relationship between genotype and phenotype, elucidation of biological and disease pathways as well as experimental aspects of interventions, therapeutics, and precision medicine. The journal aims to publish high quality original papers that present novel findings in all areas of mammalian genetic research as well as review articles on areas of topical interest. The journal will also feature commentaries and editorials to inform readers of breakthrough discoveries as well as issues of research standards, policies and ethics.
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