The majority of cases of PHHI are of autosomal recessive inheritance, involving genes located on chromosome 11p15.1, where the SUR (p-cell sulphonylurea receptor) gene, and Kir6.2 (p-cell K+ inward rectifier channel) gene are situated. Both genes encode components of ATP-sensitive potassium channels (KATP) on the p-cell, and mutations have a variable
S effect on channel activity. Mutations inactivating the KATP channels leave
J the voltage-dependent calcium channels open continuously, resulting in m continuous insulin release. Diazoxide opens normal KATP channels, and
Was this article helpful?
Diabetes is a disease that affects the way your body uses food. Normally, your body converts sugars, starches and other foods into a form of sugar called glucose. Your body uses glucose for fuel. The cells receive the glucose through the bloodstream. They then use insulin a hormone made by the pancreas to absorb the glucose, convert it into energy, and either use it or store it for later use. Learn more...