Monogenic and syndromic diabetes due to endoplasmic reticulum stress.

Citation
Stone, S. I., et al. “Monogenic And Syndromic Diabetes Due To Endoplasmic Reticulum Stress.”. Journal Of Diabetes And Its Complications, p. 107618.
Center Washington University in St Louis
Author Stephen I Stone, Damien Abreu, Janet B McGill, Fumihiko Urano
Keywords ER stress, endoplasmic reticulum, Genetic medicine, genetic testing, Personalized medicine, Wolfram syndrome
Abstract

The endoplasmic reticulum (ER) lies at the crossroads of protein folding, calcium storage, lipid metabolism, and the regulation of autophagy and apoptosis. Accordingly, dysregulation of ER homeostasis leads to β-cell dysfunction in type 1 and type 2 diabetes that ultimately culminates in cell death. The ER is therefore an emerging target for understanding the mechanisms of diabetes mellitus that captures the complex etiologies of this multifactorial class of metabolic disorders. Our strategy for developing ER-targeted diagnostics and therapeutics is to focus on monogenic forms of diabetes related to ER dysregulation in an effort to understand the exact contribution of ER stress to β-cell death. In this manner, we can develop personalized genetic medicine for ERstress-related diabetic disorders, such as Wolfram syndrome. In this article, we describe the phenotypes and molecular pathogenesis of ERstress-related monogenic forms of diabetes.

Year of Publication
2021
Journal
Journal of diabetes and its complications
Volume
35
Issue
1
Number of Pages
107618
Date Published
01/2021
ISSN Number
1873-460X
DOI
10.1016/j.jdiacomp.2020.107618
Alternate Journal
J Diabetes Complications
PMID
32518033
PMCID
PMC7648725