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.
Keyphrases
- stem cells
- case report
- healthcare
- type diabetes
- cardiovascular disease
- high throughput
- optic nerve
- endothelial cells
- gene expression
- small molecule
- mass spectrometry
- metabolic syndrome
- mesenchymal stem cells
- brain injury
- physical activity
- skeletal muscle
- blood brain barrier
- glycemic control
- high glucose
- diabetic rats
- weight loss
- combination therapy
- replacement therapy
- cerebral ischemia