(Redirected from Marfans syndrome)
- Missense mutations of fibrillin-1 gene (FBN1) on chromosome 15.
- Causes production of an abnormal fibrillin protein that when combined with normal fibrillin results in weak connective tissue. (ie a dominant negative aetiology).
- Causes production of excess active transforming growth factor beta (TGF-&beta).
- Mouse model of Marfan's responds to Losartan a TGF-β antagonist.
- Probably also explains why beta blockers currently the treatment of choice in Marfan's work, but they are weaker TGF-β antagonists.