An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21.

ABSTRACT: Although approximately 50% of Down Syndrome (DS) patients have heart abnormalities, they exhibit an overprotection against cardiac abnormalities related with the connective tissue, for example a lower risk of coronary artery disease. A recent study reported a case of a person affected by DS who carried mutations in FBN1, the gene causative for a connective tissue disorder called Marfan Syndrome (MFS). The fact that the person did not have any cardiac alterations suggested compensation effects due to DS. This observation is supported by a previous DS meta-analysis at the molecular level where we have found an overall upregulation of FBN1 (which is usually downregulated in MFS). Additionally, that result was cross-validated with independent expression data from DS heart tissue. The aim of th

SUBMITTER: Vilardell M 

PROVIDER: S-EPMC3744068 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature