WS offers an exquisite example of the role of endoplasmic reticulum (ER) stress in disease. WS is more likely to reveal the mechanisms of ER stress-mediated cell death than other common conditions in which multiple factors typically interact to produce the disease. Thus WS represents an ideal model to help determine the underlying causes of cell death in ER stress-mediated diseases.
Originally thought to be a 1/500,000 disease, there is new evidence that mutations of WFS1 occur with far greater frequency in certain populations. This results in increased incidence and prevalence of wolfram-like syndrome, presenting as Type 1 diabetes or optic nerve atrophy. The study of Wolfram syndrome may lead to a breakthrough for treatments of not only Wolfram syndrome, but also more common diseases such as type 1 diabetes, type 2 diabetes, and neurodegenerative diseases.