Synergistic effect of interleukin-10-receptor variants in a case of early-onset ulcerative colitis.

ABSTRACT:

Aim

To investigated the molecular cause of very early-onset ulcerative colitis (UC) in an 18-mo-old affected child.

Methods

We analysed the interleukin-10 (IL10) receptor genes at the DNA and RNA level in the proband and his relatives. Beta catenin and tumor necrosis factor-α (TNFα) receptors were analysed in the proteins extracted from peripheral blood cells of the proband, his relatives and familial adenomatous polyposis (FAP) and PTEN hamartoma tumor syndrome (PHTS) patients. Samples were also collected from the proband's inflamed colorectal mucosa and compared to healthy and tumour mucosa collected from a FAP patient and patients affected by sporadic colorectal cancer (CRC). Finally, we examined mesalazine and azathioprine effects on primary fibroblasts stabilised from U

SUBMITTER: Galatola M 

PROVIDER: S-EPMC3870512 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature