β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome

Diabetes. 2014 Mar;63(3):923-33. doi: 10.2337/db13-0717. Epub 2013 Nov 13.

Abstract

Wolfram syndrome is an autosomal recessive disorder caused by mutations in WFS1 and is characterized by insulin-dependent diabetes mellitus, optic atrophy, and deafness. To investigate the cause of β-cell failure, we used induced pluripotent stem cells to create insulin-producing cells from individuals with Wolfram syndrome. WFS1-deficient β-cells showed increased levels of endoplasmic reticulum (ER) stress molecules and decreased insulin content. Upon exposure to experimental ER stress, Wolfram β-cells showed impaired insulin processing and failed to increase insulin secretion in response to glucose and other secretagogues. Importantly, 4-phenyl butyric acid, a chemical protein folding and trafficking chaperone, restored normal insulin synthesis and the ability to upregulate insulin secretion. These studies show that ER stress plays a central role in β-cell failure in Wolfram syndrome and indicate that chemical chaperones might have therapeutic relevance under conditions of ER stress in Wolfram syndrome and other forms of diabetes.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Calcium / metabolism
  • Cell Differentiation
  • Endoplasmic Reticulum Stress*
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Insulin / biosynthesis
  • Insulin / metabolism
  • Insulin Secretion
  • Insulin-Secreting Cells / physiology*
  • Membrane Proteins / genetics
  • Mice
  • Phenylbutyrates / pharmacology
  • Wolfram Syndrome / genetics
  • Wolfram Syndrome / pathology*

Substances

  • Insulin
  • Membrane Proteins
  • Phenylbutyrates
  • wolframin protein
  • 4-phenylbutyric acid
  • Calcium