A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.

ABSTRACT:

Background

Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in the fibrillin-1 gene. This syndrome constitutes a significant identifiable subtype of aortic aneurysmal disease, accounting for over 5% of ascending and thoracic aortic aneurysms.

Results

We used spotted membrane DNA macroarrays to identify genes whose altered expression levels may contribute to the phenotype of the disease. Our analysis of 4132 genes identified a subset with significant expression differences between skin fibroblast cultures from unaffected controls versus cultures from affected individuals with known fibrillin-1 mutations. Subsequently, 10 genes were chosen for validation by quantitative RT-PCR.

Conclusion

Differential expression of many of the validate

SUBMITTER: Yao Z 

PROVIDER: S-EPMC2174953 | biostudies-literature | 2007 Sep

REPOSITORIES: biostudies-literature