Marfan Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Marfan Syndrome, including details on genetics, causes, symptoms, treatment.

A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.

Yao Z, Jaeger JC, Ruzzo WL, Morales CZ, Emond M, Francke U, Milewicz DM, Schwartz SM, Mulvihill ER

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 non-atherosclerotic thoracic aortic aneurysms. RESULTS: We used DNA microarrays 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 qRT-PCR. CONCLUSIONS: Differential expression of many of the validated genes was associated with the MFS samples when an additional group of unaffected and MFS affected subjects were analyzed (p-value < 3 x 10-6 under the null hypothesis that expression levels in cultured fibroblasts are unaffected by MFS status). An unexpected observation was the range of individual gene expression. In unaffected control subjects, expression ranges exceeding 10 fold were seen in many of the genes selected for qRT-PCR validation. The variation in expression in the MFS affected subjects was even greater.

Published 13 September 2007 in BMC Genomics, 8(1): 319.
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