Wolfram syndrome 1 gene regulates pathways maintaining beta-cell health and survival

Lab Invest. 2020 Jun;100(6):849-862. doi: 10.1038/s41374-020-0408-5. Epub 2020 Feb 14.

Abstract

Wolfram Syndrome 1 (WFS1) protein is an endoplasmic reticulum (ER) factor whose deficiency results in juvenile-onset diabetes secondary to cellular dysfunction and apoptosis. The mechanisms guiding β-cell outcomes secondary to WFS1 function, however, remain unclear. Here, we show that WFS1 preserves normal β-cell physiology by promoting insulin biosynthesis and negatively regulating ER stress. Depletion of Wfs1 in vivo and in vitro causes functional defects in glucose-stimulated insulin secretion and insulin content, triggering Chop-mediated apoptotic pathways. Genetic proof of concept studies coupled with RNA-seq reveal that increasing WFS1 confers a functional and a survival advantage to β-cells under ER stress by increasing insulin gene expression and downregulating the Chop-Trib3 axis, thereby activating Akt pathways. Remarkably, WFS1 and INS levels are reduced in type-2 diabetic (T2DM) islets, suggesting that WFS1 may contribute to T2DM β-cell pathology. Taken together, this work reveals essential pathways regulated by WFS1 to control β-cell survival and function primarily through preservation of ER homeostasis.

Publication types

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

MeSH terms

  • Animals
  • Blood Glucose / analysis
  • Blood Glucose / metabolism
  • Cell Line
  • Cells, Cultured
  • Endoplasmic Reticulum Stress / physiology
  • Humans
  • Insulin / analysis
  • Insulin / metabolism
  • Insulin-Secreting Cells* / cytology
  • Insulin-Secreting Cells* / metabolism
  • Membrane Proteins* / genetics
  • Membrane Proteins* / metabolism
  • Membrane Proteins* / physiology
  • Mice, Knockout
  • Signal Transduction / physiology
  • Wolfram Syndrome

Substances

  • Blood Glucose
  • Insulin
  • Membrane Proteins
  • wolframin protein