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    What is Marfan Syndrome and its Causes?

    Marfan syndrome, named so after the French pediatrician Antoine Marfan who first described the condition in 1896, is a disorder that affects the connective tissue.

    For those of you who do not know about the connective tissue, it performs the function of providing “structural support to the tissues and organs of the body”. Any disorder affecting this tissue hinders with the normal functioning of the skeletal system, skin, eyes and the cardiovascular system.

    What causes Marfan Syndrome?




    Marfan syndrome is basically a genetic disorder, induced by the malfunctioning of one of our genes called fibrillin-1. This gene, symbolized as FBN1, is vital for building the elastic tissues present in our bodies.
    US based scientist, Francesco Ramirez, was the first person to establish the link between the gene FBN1 and Marfan syndrome in 1991.

    A normally functioning FBN1 gene stimulates the production of a protein which in turn takes care of the repair and growth of the tissues in our body. If this gene malfunctions, the process of growth is severely affected, and the following parts of the body get to bear the brunt:


    • The skin
    • The aorta (i.e. the artery which is responsible for carrying oxygenated blood from the heart to the various parts of the body). Affected aorta becomes very weak, giving rise to a condition called aortic dilation.
    • The lung tissue
    • The tissues that cover the spinal cord
    • The eyes, giving rise to complications like cataracts, etc., and
    • The entire skeletal system, which causes abnormal growth of the bones in an affected person. Such people have extremely long limbs (arms and legs), very long and thin fingers and are unusually tall.



    CAUSES OF MARFAN SYNDROME



    In 70% of the cases, Marfan syndrome is genetically transmitted i.e. passed on to children by their parents. Since the FBN1 gene which causes this disorder is a dominant one, the chances of a person inheriting this errant gene from even one of the parents being affected by Marfan syndrome are significant.

    30% of the remaining cases of Marfan syndrome (the ones not caused by genetic disorders) are usually caused by spontaneous genetic deformities in the affected person.

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