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ea0039ep96 | Other | BSPED2015

A distinct population of islet cells defines diffuse congenital hyperinsulinism in infancy but not other forms of the disease

Han Bing Bing , Newbould Melanie , Batra Gauri , Cheesman Edmund , Craigie Ross , Mohamed Zainab , Rigby Lindsey , Padidela Raja , Skae Mars , Cosgrove Karen , Dunne Mark , Banerjee Indraneel

Background/hypothesis: Congenital hyperinsulinism in infancy (CHI) mainly arises from mutations in ATP-sensitive potassium channel genes. However, the expression pattern of defects can be markedly diverse. In diffuse CHI (CHI-D) all islet cells express gene defects, whereas patients with focal CHI (CHI-F) only express defects in a localised region of islet cells due to loss of a maternally-imprinted locus. Here, we examined the properties of a novel population of CHI islet cel...

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A distinct population of islet cells defines diffuse congenital hyperinsulinism in infancy but not other forms of the disease

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