Article

Reviews in Endocrine and Metabolic Disorders

, Volume 11, Issue 3, pp 193-198

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11

  • Emma L. EdghillAffiliated withInstitute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, University of Exeter
  • , Sarah E. FlanaganAffiliated withInstitute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, University of Exeter
  • , Sian EllardAffiliated withInstitute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, University of Exeter Email author 

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Abstract

The ATP-sensitive potassium (KATP) channel is composed of two subunits SUR1 and Kir6.2. The channel is key for glucose stimulated insulin release from the pancreatic beta cell. Activating mutations have been identified in the genes encoding these subunits, ABCC8 and KCNJ11, and account for approximately 40% of permanent neonatal diabetes cases. The majority of patients with a KATP mutation present with isolated diabetes however some have presented with the Developmental delay, Epilepsy and Neonatal Diabetes syndrome. This review focuses on mutations in the KATP channel which result in permanent neonatal diabetes, we review the clinical and functional effects as well as the implications for treatment.

Keywords

Diabetes Neonatal diabetes Genetics KATP channel Monogenic