Marfan syndrome

Marfan syndrome (MFS) is a systemic disorder of connective tissue caused by mutations in fibrillin-1. Cardiac dysfunction in people with Marfan syndrome (MFS) is especially important since cardiovascular pathologies are often the cause of premature death in affected people. Mouse model of MFS FbnC1039G+/- is generated specifically to examine this issue. Marfan HT (heterozygous) mice of 2-4 months demonstrate a mild hypertrophic cardiac remodeling with predominant decline of diastolic function and increased transforming growth factor-? canonical (p-SMAD2/3) and noncanonical (p-ERK1/2 and p-p38 MAPK) signaling and upregulation of hypertrophic markers natriuretic peptides atrium natriuretic peptide and brain natriuretic peptide. Older HT (heterozygous) mice (6-14 months) expressed two distinct phenotypes with manifestation of either dilated or constricted left ventricular chamber. Dilatation of left ventricular chamber is accompanied by biochemical evidence of greater mechanical stress, such as elevated ERK1/2 and p38 MAPK phosphorylation and increased brain natriuretic peptide expression. The results of studies where mouse model is used, indicate that cardiac dysfunction isn’t associated with the increase of interstitial fibrosis and nonmyocyte proliferation. In the mouse model fibrillin-1, haploinsufficiency results in the early onset of nonfibrotic hypertrophic cardiac remodeling and dysfunction, independently from valvular abnormalities (1). I do find this animal model extremely effective since it allows to examine the health issue that often becomes a cause of premature deaths in individuals with MFS.

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