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.

Marfan syndrome: from molecular pathogenesis to clinical treatment.

Ramirez F, Dietz HC

Institute of Genetic Medicine, Howard Hughes Medical Institute, Johns Hopkins University, School of Medicine, BRB 539, 733 North Broadway, Baltimore, MD 21205, USA.

Marfan syndrome is a connective tissue disorder with ocular, musculoskeletal and cardiovascular manifestations that are caused by mutations in fibrillin-1, the major constituent of extracellular microfibrils. Mouse models of Marfan syndrome have revealed that fibrillin-1 mutations perturb local TGFbeta signaling, in addition to impairing tissue integrity. This discovery has led to the identification of a new syndrome with overlapping Marfan syndrome-like manifestations that is caused by mutations in TGFbeta receptor types I and II. It has also prompted the idea that TGFbeta antagonism will be a productive treatment strategy in Marfan syndrome and perhaps in other related disorders. More generally, these studies have established that Marfan syndrome is part of a group of developmental disorders with broad and complex effects on morphogenesis, homeostasis and organ function.

Published 5 June 2007 in Curr Opin Genet Dev, 17(3): 252-8.
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