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JCI online early table of contents: Feb. 15, 2010
Date:2/15/2010

Individuals with the inherited disorder Wolfram syndrome develop a form of diabetes known as insulin-dependent diabetes mellitus, which is caused by loss of cells in the pancreas that produce the hormone insulin (beta cells), and suffer from neurological dysfunctions. One form of Wolfram syndrome is caused by mutations in the WFS1 gene, which produces the protein WFS1. Previous studies have shown that the normal function of WFS1 is to protect against a cellular process known as ER stress, but exactly how it does this was not known. However, a team of researchers, led by Fumihiko Urano, at the University of Massachusetts Medical School, Worcester, has now identified the signaling pathway by which WFS1 negatively regulates ER stress. Importantly, this signaling pathway was dysregulated in pancreatic beta cells from mice lacking WFS1 and immune cells from patients with Wolfram syndrome, leading the authors to conclude that unresolved ER stress in the pancreatic beta cells of individuals with Wolfram syndrome leads to their loss and the development of insulin-dependent diabetes mellitus.

TITLE: Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells

AUTHOR CONTACT:

Fumihiko Urano
University of Massachusetts Medical School, Worcester, MA, USA.
Phone: 508.856.6012; Fax: 508.856.4650; E-mail: http://www.jci.org/articles/view/39678?key=83b34b29fda6ae4ec6bd

METABOLIC DISEASE: Two proteins with opposing roles in regulating energy balance

A team of researchers, led by Kendra Bence, at the University of Pennsylvania, Philadelphia, has identified two proteins with opposing roles in the regulation of energy balance by nerve cells in the brain and spinal cord of mice known as POMC neurons.

In the study, m
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Contact: Karen Honey
press_releases@the-jci.org
215-573-1850
Journal of Clinical Investigation
Source:Eurekalert

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