Current Diabetes Reports

, 11:519

Neonatal Diabetes: An Expanding List of Genes Allows for Improved Diagnosis and Treatment

Authors

    • Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, Kovler Diabetes CenterThe University of Chicago
  • Rochelle N. Naylor
    • Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, Kovler Diabetes CenterThe University of Chicago
  • Louis H. Philipson
    • Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, Kovler Diabetes CenterThe University of Chicago
  • Graeme I. Bell
    • Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, Kovler Diabetes CenterThe University of Chicago
Genetics (Jose C. Florez, Section Editor)

DOI: 10.1007/s11892-011-0234-7

Cite this article as:
Greeley, S.A.W., Naylor, R.N., Philipson, L.H. et al. Curr Diab Rep (2011) 11: 519. doi:10.1007/s11892-011-0234-7

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 (KATP), 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.

Keywords

Neonatal diabetesMonogenic diabetesNDMPNDMTNDMMODYKCNJ11ABCC8KATPINS6q24EIF2AK3GCKPDX1FOXP3IPEXPTF1ARFX6NEUROG3NEUROD1WFS1DIDMOADSLC19A2TRMASLC2A2GLIS3HNF1BIER3IP1

Copyright information

© Springer Science+Business Media, LLC 2011