BADLY ENGINEERED FIBRILLIN - LESSONS FROM MOLECULAR STUDIES OF MARFAN-SYNDROME

Marfan syndrome (MFS) is one of the most common inherited connective t issue disorders that severely affects the cardiovascular system. Mutat ions in the gene encoding fibrillin-1 (FBN1) have been shown to cause MFS as well as dominant ectopia lentis and neonatal Marfan syndrome. F ibrillin-1 is the major component of elastic fiber microfibrils in the extracellular matrix of connective tissue. Recent molecular studies h ave brought some light into understanding the pathogenesis of MFS, but the diagnostic problems still prevail, and targeted therapy of MFS mu st await better dissection of the role of fibrillin-1 in tissue phenot ype using different experimental systems. (C) 1997, Elsevier Science I nc.