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Rare Diseases Week Insulin Impairment
28 February 2014

Insulin Impairment

It could be a far-flung galaxy, but these are actually insulin-producing beta cells derived from people with a rare genetic disorder called Wolfram syndrome. Among other things, the disorder causes loss of vision and diabetes, characterised by high blood sugar levels resulting from a shortage of insulin. Having reprogrammed skin cells taken from Wolfram patients into induced pluripotent stem cells, researchers transformed them into beta cells for detailed study. They found that the beta cells failed to secrete enough insulin because of a fault in the endoplasmic reticulum – a cellular department that makes proteins. However, a compound called 4-phenyl butyric acid was able to restore the cells’ insulin-making ability. The compound could potentially treat Wolfram syndrome, but researchers also want to see if it can preserve beta cell function in more prevalent forms of diabetes.

Written by Daniel Cossins

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BPoD stands for Biomedical Picture of the Day. Managed by the MRC Laboratory of Medical Sciences until Jul 2023, it is now run independently by a dedicated team of scientists and writers. The website aims to engage everyone, young and old, in the wonders of biology, and its influence on medicine. The ever-growing archive of more than 4000 research images documents over a decade of progress. Explore the collection and see what you discover. Images are kindly provided for inclusion on this website through the generosity of scientists across the globe.

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