title: Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.
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.
authors: Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, Kovler Diabetes Center, The University of Chicago, Chicago, IL 60637, USA. sgreeley@peds.bsd.uchicago.edu
authors: Siri Atma W
authors: SA
authors: Greeley
authors: Rochelle N
authors: RN
authors: Naylor
authors: Louis H
authors: LH
authors: Philipson
authors: Graeme I
authors: GI
authors: Bell
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D003920:Diabetes Mellitus / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000188:drug therapy / Q000235:genetics*; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D011955:Receptors, Drug / Q000235:genetics; D013453:Sulfonylurea Compounds / Q000627:therapeutic use; D064233:Sulfonylurea Receptors; D000099161:Kcnj11 Channel
chemical_list: D018528:ATP-Binding Cassette Transporters; D007004:Hypoglycemic Agents; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D013453:Sulfonylurea Compounds; D064233:Sulfonylurea Receptors; D000099161:Kcnj11 Channel