Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment.

Federica Ortolani,Marcella Vendemiale,Valeria Grasso,Fabrizio Barbetti,Elvira Piccinno,Francesco Papadia,Barbara Felappi,Albina Tummolo,Rossana Panzeca,Claudio Cortese

doi:10.1007/s00592-015-0793-1

Abstract

Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment.

Highlights

Insulin gene mutations, either dominant or recessive, can cause permanent neonatal diabetes mellitus (INS/PNDM), which is defined as diabetes with onset within 6 months of birth [1, 2]
In most patients with heterozygous, dominant INS mutations, C-peptide is in the normal-low range at diabetes outset, but over time declines to undetectable levels as a consequence of ongoing apoptosis of the pancreatic beta cells
This process is triggered by the sustained endoplasmic reticulum (ER) stress [2] induced by misfolding of mutant insulin trapped inside the beta cell

Summary

Introduction

Either dominant or recessive, can cause permanent neonatal diabetes mellitus (INS/PNDM), which is defined as diabetes with onset within 6 months of birth [1, 2]. INS dominant mutations give rise to diabetes that presents during infancy [3]. In most patients with heterozygous, dominant INS mutations, C-peptide is in the normal-low range at diabetes outset, but over time declines to undetectable levels as a consequence of ongoing apoptosis of the pancreatic beta cells.

Results

Conclusion