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

Provided by Journal of Clinical Investigation