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Marfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome2) Centromere. The point where the two chromatids touch, and where the microtubules attach. 3) Short arm. 4) Long arm. A chromosome is, minimally, a very long, continuous piece of DNA, which contains many genes, regulatory elements and other intervening n 15. FBN1 encodes a protein called fibrillin , which is essential for the formation of elastic fibres found in connective tissue. Marfan's Syndrome is associated with incomplete penetrance, therefore all persons carrying the mutation do not develop the disease. Without the structural support provided by fibrillin, many connective tissues are weakened, which can have severe consequences on support and stability. A related disease has been found in miceFor the computer peripheral, see computer mouse. A mouse is a mammal that belongs to one of numerous species of small rodents in the genus Mus and various related genera of the family Muridae. Mus musculus, the common house mouse (or laboratory mouse) is, and it is hoped that the study of mouse fibrillin synthesis and secretion, and connective tissue formation, will further our understanding of Marfan syndrome in humans.
Estimates indicate that perhaps 1 in 10,000 people has Marfan syndrome. There is no cure, but effective treatment allows many people with the disorder to live normally. It affects all races and both sexes equally.
The most serious conditions associated with Marfan syndrome primarily involve the cardiovascular system. Marfan syndrome may cause leakage of the mitral or aortic valves that control the flow of blood through the heart. This may produce shortness of breath, an irregular pulse, and undue tiredness. Another complication is aortic aneurysm.
Marfan syndrome sufferers may grow to larger than normal height, and typically have long, slender limbs and fingers. Due to the spidery appearance of the fingers, Marfan syndrome has also been known as arachnodactyly. In addition to affecting height and limb proportions, Marfan syndrome may produce other skeletal symptoms. Curvature of the spine ( scoliosis) is a common problem, as is abnormal indentation or protrusion of the sternum. These symptoms may in turn cause unusual pressure on the heart and lungs.
Nearsightedness or myopia is a common condition associated with Marfan syndrome. In addition, the weakening of connective tissue often causes detachment of the retina and/or cornea.