Diabetes Genetics & Genomics
Kir6.2 gene mutations in R50 residue cause neonatal diabetes plus different functional effects
Published in Genomics and Genetics Weekly, August 11th, 2006
According to a study from England, "Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive K+ channel (KATP channel), are a common cause of neonatal diabetes. We identified a novel KCNJ11 mutation, R50Q, that causes permanent neonatal diabetes (PNDM) without neurological problems."
K. Shimomura and colleagues at the University of Oxford investigated the functional effects this mutation and another at the same residue (R50P) that led to PNDM in association with...
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