Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.

ABSTRACT:

Background & aims

Chronic intestinal pseudo-obstruction (CIPO) is characterized by severe intestinal dysmotility that mimics a mechanical subocclusion with no evidence of gut obstruction. We searched for genetic variants associated with CIPO to increase our understanding of its pathogenesis and to identify potential biomarkers.

Methods

We performed whole-exome sequencing of genomic DNA from patients with familial CIPO syndrome. Blood and lymphoblastoid cells were collected from patients and controls (individuals without CIPO); levels of messenger RNA (mRNA) and proteins were analyzed by quantitative reverse-transcription polymerase chain reaction, immunoblot, and mobility shift assays. Complementary DNAs were transfected into HEK293 cells. Expression of rad21 was suppressed

SUBMITTER: Bonora E 

PROVIDER: S-EPMC4375026 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature