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MARFAN SYNDROME is a connective tissue
disorder, so affects many structures,
including the skeleton, lungs, eyes, heart
and blood vessels. The disease is
characterized by unusually long limbs, and is
believed to have affected Abraham Lincoln.
Marfan syndrome is an autosomal dominant
disorder that has been linked to the FBN1
gene on chromosome 15. FBN1 encodes a
protein called fibrillin, which is essential for
the formation of elastic fibres found in
connective tissue. Without the structural
support provided by fibrillin, many tissues
are weakened, which can have severe
consequences, for example, ruptures in the
walls of major arteries.
Beta blockers have been used to control
some of the cardiovascular symptoms of
Marfan syndrome; however, they are not
effective against the skeletal and ocular
problems, which can also be serious. A
related disease has been found in mice, and
it is hoped that the study of mouse fibrillin
synthesis and secretion, and connective
tissue formation, will further our
understanding Marfan syndrome in humans.
