PubMed 21993633
Referenced in: none
Automatically associated channels: Kir1.1 , Kir6.2
Title: Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.
Authors: Siri Atma W Greeley, Rochelle N Naylor, Louis H Philipson, Graeme I Bell
Journal, date & volume: Curr. Diab. Rep., 2011 Dec , 11, 519-32
PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/21993633
Abstract
There has been major progress in recent years uncovering the genetic causes of diabetes presenting in the first year of life. Twenty genes have been identified to date. The most common causes accounting for the majority of cases are mutations in the genes encoding the two subunits of the ATP-sensitive potassium channel (K(ATP)), KCNJ11 and ABCC8, and the insulin gene (INS), as well as abnormalities in chromosome 6q24. Patients with activating mutations in KCNJ11 and ABCC8 can be treated with oral sulfonylureas in lieu of insulin injections. This compelling example of personalized genetic medicine leading to improved glucose regulation and quality of life may-with continued research-be repeated for other forms of neonatal diabetes in the future.