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An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21
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| Zeitschriftentitel: | Biology Open |
|---|---|
| Personen und Körperschaften: | , , |
| In: | Biology Open, 2, 2013, 8, S. 771-778 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
The Company of Biologists
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| Schlagwörter: |
| author_facet |
Vilardell, Mireia Civit, Sergi Herwig, Ralf Vilardell, Mireia Civit, Sergi Herwig, Ralf |
|---|---|
| author |
Vilardell, Mireia Civit, Sergi Herwig, Ralf |
| spellingShingle |
Vilardell, Mireia Civit, Sergi Herwig, Ralf Biology Open An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21 General Agricultural and Biological Sciences General Biochemistry, Genetics and Molecular Biology |
| author_sort |
vilardell, mireia |
| spelling |
Vilardell, Mireia Civit, Sergi Herwig, Ralf 2046-6390 The Company of Biologists General Agricultural and Biological Sciences General Biochemistry, Genetics and Molecular Biology http://dx.doi.org/10.1242/bio.20134408 <jats:title>Summary</jats:title> <jats:p>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.</jats:p> An integrative computational analysis provides evidence for <i>FBN1</i>-associated network deregulation in trisomy 21 Biology Open |
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| title |
An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21 |
| title_unstemmed |
An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21 |
| title_full |
An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21 |
| title_fullStr |
An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21 |
| title_full_unstemmed |
An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21 |
| title_short |
An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21 |
| title_sort |
an integrative computational analysis provides evidence for <i>fbn1</i>-associated network deregulation in trisomy 21 |
| topic |
General Agricultural and Biological Sciences General Biochemistry, Genetics and Molecular Biology |
| url |
http://dx.doi.org/10.1242/bio.20134408 |
| publishDate |
2013 |
| physical |
771-778 |
| description |
<jats:title>Summary</jats:title>
<jats:p>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.</jats:p> |
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| author | Vilardell, Mireia, Civit, Sergi, Herwig, Ralf |
| author_facet | Vilardell, Mireia, Civit, Sergi, Herwig, Ralf, Vilardell, Mireia, Civit, Sergi, Herwig, Ralf |
| author_sort | vilardell, mireia |
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| description | <jats:title>Summary</jats:title> <jats:p>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.</jats:p> |
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| spelling | Vilardell, Mireia Civit, Sergi Herwig, Ralf 2046-6390 The Company of Biologists General Agricultural and Biological Sciences General Biochemistry, Genetics and Molecular Biology http://dx.doi.org/10.1242/bio.20134408 <jats:title>Summary</jats:title> <jats:p>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.</jats:p> An integrative computational analysis provides evidence for <i>FBN1</i>-associated network deregulation in trisomy 21 Biology Open |
| spellingShingle | Vilardell, Mireia, Civit, Sergi, Herwig, Ralf, Biology Open, An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21, General Agricultural and Biological Sciences, General Biochemistry, Genetics and Molecular Biology |
| title | An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21 |
| title_full | An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21 |
| title_fullStr | An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21 |
| title_full_unstemmed | An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21 |
| title_short | An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21 |
| title_sort | an integrative computational analysis provides evidence for <i>fbn1</i>-associated network deregulation in trisomy 21 |
| title_unstemmed | An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21 |
| topic | General Agricultural and Biological Sciences, General Biochemistry, Genetics and Molecular Biology |
| url | http://dx.doi.org/10.1242/bio.20134408 |