Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

ABSTRACT:

Background & aims

Congenital diarrheal disorders are rare inherited intestinal disorders characterized by intractable, sometimes life-threatening, diarrhea and nutrient malabsorption; some have been associated with mutations in diacylglycerol-acyltransferase 1 (DGAT1), which catalyzes formation of triacylglycerol from diacylglycerol and acyl-CoA. We investigated the mechanisms by which DGAT1 deficiency contributes to intestinal failure using patient-derived organoids.

Methods

We collected blood samples from 10 patients, from 6 unrelated pedigrees, who presented with early-onset severe diarrhea and/or vomiting, hypoalbuminemia, and/or (fatal) protein-losing enteropathy with intestinal failure; we performed next-generation sequencing analysis of DNA from 8 patients. Organoids

SUBMITTER: van Rijn JM 

PROVIDER: S-EPMC6058035 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature