| Full text | |
| Author(s): |
Gyuricza, Isabela Gerdes
[1]
;
de Souza, Rodrigo Barbosa
[1]
;
Farinha-Arcieri, Luis Ernesto
[1]
;
Fernandes, Gustavo Ribeiro
[1]
;
Pereira, Lygia Veiga
[1]
Total Authors: 5
|
| Affiliation: | [1] Univ Sao Paulo, Natl Lab Embryon Stem Cells LaNCE, Dept Genet & Evolutionary Biol, Biosci Inst, BR-05508900 Sao Paulo, SP - Brazil
Total Affiliations: 1
|
| Document type: | Journal article |
| Source: | European Journal of Human Genetics; v. 28, n. 9 JUN 2020. |
| Web of Science Citations: | 0 |
| Abstract | |
Marfan syndrome (MFS) is a connective tissue disease caused by variants in the FBN1 gene. Nevertheless, other genes influence the manifestations of the disease, characterized by high clinical variability even within families. We mapped modifier loci for cardiovascular and skeletal manifestations in the mg increment (loxPneo) mouse model for MFS and the synthenic loci in the human genome. Corroborating our findings, one of those loci was identified also as a modifier locus in MFS patients. Here, we investigate the HSPG2 gene, located in this region, as a candidate modifier gene for MFS. We show a correlation between Fbn1 and Hspg2 expression in spinal column and aorta in non-isogenic mg increment (loxPneo) mice. Moreover, we show that mice with severe phenotypes present lower expression of Hspg2 than those mildly affected. Thus, we propose that HSPG2 is a strong candidate modifier gene for MFS and its role in modulating disease severity should be investigated in patients. (AU) | |
| FAPESP's process: | 16/16077-0 - Characterization of the role of the Hspg2 gene as a modulator of cardiovascular and skeletal phenotypes in Marfan syndrome |
| Grantee: | Lygia da Veiga Pereira |
| Support Opportunities: | Regular Research Grants |
| FAPESP's process: | 18/11708-8 - Analysis of differential gene expression in a mouse model for Marfan Syndrome with phenotypic variability |
| Grantee: | Isabela Gerdes Gyuricza |
| Support Opportunities: | Scholarships abroad - Research Internship - Master's degree |
| FAPESP's process: | 16/18255-3 - Characterization of the role of the Hspg2 gene as a modulator of cardiovascular and skeletal phenotypes in Marfan Syndrome |
| Grantee: | Isabela Gerdes Gyuricza |
| Support Opportunities: | Scholarships in Brazil - Master |