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JCI early table of contents for Nov. 1, 2012
Date:11/1/2012

Congenital diarrheal disorder linked to a mutation in DGAT1

Congenital diarrheal disorders (CDD) are a group of rare intestinal diseases that are caused by genetic mutations. In a study published in the Journal of Clinical Investigation, Robert Farese and colleagues at the University of California, San Francisco, identified a family with two of three children affected by CDD. The affected children both carried a rare mutation in the DGAT1 gene. DGAT1 mediates the formation of triglycerides and is being assessed as a therapeutic target in the treatment of obesity. The study by Farese's group suggests that targeting of DGAT1 could cause a severe diarrheal disorder.

TITLE:
DGAT1 mutation is linked to a congenital diarrheal disorder

AUTHOR CONTACT:
Robert Farese, Jr.
University of California, San Francisco, San Francisco, CA, USA
Phone: 415-734-2000; Fax: 415-355-0960; E-mail: bfarese@gladstone.ucsf.edu

View this article at: http://www.jci.org/articles/view/64873?key=0ba6352b4896860898b8


Feel the burn: natriuretic peptides enhance human skeletal muscle metabolism

Cardiac natiuretic peptides (NP) are proteins secreted by the heart muscle that help regulate different aspects of metabolism. In a study published in the Journal of Clinical Investigation, researchers led by Cedric Moro at the Institute of Metabolic and Cardiovascular Diseases in Toulouse, France investigated the role of NPs in human skeletal muscle metabolism. Expression of the NP receptor NPRA was correlated with several other metabolism related genes. Additionally, aerobic exercise training enhanced their expression and increased fat oxidation. These results demonstrate that NP signaling in human skeletal muscle increases metabolism and might contribute to exercise-induced improvement in
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Contact: Jillian Hurst
press_releases@the-jci.org
Journal of Clinical Investigation
Source:Eurekalert

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