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Neonatal diabetes
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The ATP-dependent potassium (KATP) channels of pancreatic beta cells react to increased ATP by closing. This results in the opening of voltage-regulated calcium channels and insulin release. A KATP channel consists of four inner (Kir6.2) subunits and four outer units that constitute the beta cell sulphonylurea receptor, SUR1. Kir 6.2 is encoded by the gene KCNJ11 and SUR1 by the gene ABCC8. Activating (gain-of-function) mutations in these genes should, and do, cause diabetes and inactivating (loss-of-function) mutations, insulin hypersecretion and hypoglycaemia.
Neonatal diabetes affects about one in 100 000 infants. In about half of cases the diabetes is transient (though it may recur in the second or third decades of life) and in half it is permanent. Transient diabetes is associated, in more than half of cases, with abnormalities on chromosome 6q24. Most cases are associated with an activating mutation in a zinc-finger gene. The most common cause
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