Medical Research Council - London Institute of Medical Sciences

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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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