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  An integrative computational analysis provides evidence for FBN1-associated network de-regulation in trisomy 21

Vilardell, M., Civit, S., & Herwig, R. (2013). An integrative computational analysis provides evidence for FBN1-associated network de-regulation in trisomy 21. Biology Open, 2(8), 771-778. doi:10.1242/bio.20134408.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0001-01EE-2 Version Permalink: http://hdl.handle.net/21.11116/0000-0001-01EF-1
Genre: Journal Article

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 Creators:
Vilardell, Mireia1, Author              
Civit, Sergi , Author
Herwig, Ralf2, Author              
Affiliations:
1Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              
2Bioinformatics (Ralf Herwig), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479648              

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Free keywords: Bioinformatics; Cardiovascular; Down Syndrome; Heart; Marfan Syndrome
 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.

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Language(s): eng - English
 Dates: 2013-06-202013-08-15
 Publication Status: Published in print
 Pages: 8
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1242/bio.20134408
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Title: Biology Open
Source Genre: Journal
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Publ. Info: Cambridge, UK : The Company of Biologists
Pages: - Volume / Issue: 2 (8) Sequence Number: - Start / End Page: 771 - 778 Identifier: ISSN: 2046-6390 (online)