Mutation in DGAT1 Associated With Congenital Diarrheal Disorder

Genetic mutations cause a group of rare intestinal diseases called congenital diarrheal disorders (CDD).

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.