Dysgenesis of enteroendocrine cells in Aristaless-Related Homeobox polyalanine expansion mutations.

ABSTRACT:

Objectives

Severe congenital diarrhea occurs in approximately half of patients with Aristaless-Related Homeobox (ARX) null mutations. The cause of this diarrhea is unknown. In a mouse model of intestinal Arx deficiency, the prevalence of a subset of enteroendocrine cells is altered, leading to diarrhea. Because polyalanine expansions within the ARX protein are the most common mutations found in ARX-related disorders, we sought to characterize the enteroendocrine population in human tissue of an ARX mutation and in a mouse model of the corresponding polyalanine expansion (Arx).

Methods

Immunohistochemistry and quantitative real-time polymerase chain reaction were the primary modalities used to characterize the enteroendocrine populations. Daily weights were determined for the

SUBMITTER: Terry NA 

PROVIDER: S-EPMC4308495 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature