dc.contributor |
Universitat de Barcelona |
dc.contributor.author |
Vilardell, Mireia |
dc.contributor.author |
Civit Vives, Sergi |
dc.contributor.author |
Herwig, R. |
dc.date |
2014-03-26T10:59:56Z |
dc.date |
2014-03-26T10:59:56Z |
dc.date |
2013-06-25 |
dc.date |
2014-03-26T10:59:56Z |
dc.identifier.citation |
1874-1967 |
dc.identifier.citation |
636913 |
dc.identifier.uri |
http://hdl.handle.net/2445/52997 |
dc.format |
8 p. |
dc.format |
application/pdf |
dc.language.iso |
eng |
dc.publisher |
Bentham Open |
dc.relation |
Reproducció del document publicat a: http://dx.doi.org/10.1242/bio.20134408 |
dc.relation |
The Open Biology Journal, 2013, vol. 2, p. 771-778 |
dc.relation |
http://dx.doi.org/10.1242/bio.20134408 |
dc.rights |
cc-by-nc (c) Vilardell, M. et al., 2013 |
dc.rights |
info:eu-repo/semantics/openAccess |
dc.rights |
http://creativecommons.org/licenses/by-nc/3.0/es |
dc.subject |
Síndrome de Down |
dc.subject |
Genètica |
dc.subject |
Malalties coronàries |
dc.subject |
Bioinformàtica |
dc.subject |
Down syndrome |
dc.subject |
Genetics |
dc.subject |
Coronary diseases |
dc.subject |
Bioinformatics |
dc.title |
An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21 |
dc.type |
info:eu-repo/semantics/article |
dc.type |
info:eu-repo/semantics/publishedVersion |
dc.description.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 this work is to elucidate the role of FBN1 in DS and to establish a molecular link to MFS and MFS-related syndromes using a computational approach. To reach that, we conducted different analytical approaches over two DS studies (our previous meta-analysis and independent expression data from DS heart tissue) and revealed expression alterations in the FBN1 interaction network, in FBN1 co-expressed genes and FBN1-related pathways. After merging the significant results from different datasets with a Bayesian approach, we prioritized 85 genes that were able to distinguish control from DS cases. We further found evidence for several of these genes (47%), such as FBN1, DCN, and COL1A2, being dysregulated in MFS and MFS-related diseases. Consequently, we further encourage the scientific community to take into account FBN1 and its related network for the study of DS cardiovascular characteristics. |