Marfan syndrome is a rare genetic, connective tissue disorder that results in unusually long limbs and fingers and may cause the aorta to burst.
When researchers found the mutation related to fibrillin-1 in 1990, it seemed that nothing could be done to alter the course of this disease. But recently in December 2013, the New York Times published an article on Marfan syndrome over the research of Dr. Hal Dietz, professor of genetics and medicine investigator at Johns Hopkins, who has been studying over the disease for the last 30 years. Currently he is Director of William S. Smilow Center for Marfan Syndrome Research at Johns Hopkins.
The most notable and unexplained features of this condition are marked by long bones in the fingers, arms and legs, deep set eyes slanted downward, small chins and flat cheekbones, small amount of body fat with extremely low muscle mass.
About 10 years back, Dr. Hal Dietz with his colleagues found the answer in another protein called T.G.F.-beta (transforming growth factor beta). This protein is responsible to control the behaviour of cells during development, and is also used in repairing wounds.
The function of T.G.F.-beta depends upon fibrillin-1, the same protein that gets altered in Marfan syndrome. In a normal person, fibrillin-1 attaches the T.G.F.-beta to connective tissue, but this process fails in case of people with Marfan syndrome. The T.G.F.-beta protein floats free in the bloodstream that creates problems with cell leading the features of Marfan, including excess growth of the aorta.
Thus Dr. Dietz research came up with the conclusion that to treat Marfan syndrome, the function of T.G.F.-beta must be blocked. In 2008, Dr. Dietz with his colleagues published a paper in the New England Journal of Medicine, which described about the positive effects of a drug called 'losartan' on Marfan syndrome. Losartan is generally used to treat high blood pressure, but when administered to patients of Marfan, the growth rate of the aorta that resulted in heart failure, slowed to 0.5 mm a year from 3.5mm a year.