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Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue.[1] Fibrillin-1 is a major component of the microfibrils that form a sheath surrounding the amorphous elastin. It is believed that the microfibrils are composed of end-to-end polymers of fibrillin. To date, 3 forms of fibrillin have been described. The fibrillin-1 protein was isolated by Sakai in 1986,[2] and mutations in the gene have been linked to the Marfan syndrome. At present more than 100 different mutations have been described. Fibrillin-2 was isolated in 1994 by Zhang[3] and is thought to play a role in early elastogenesis. Mutations in the fibrillin-2 gene have been linked to Beal's Syndrome. More recently, fibrillin-3 was described and is believed to be located mainly in the brain.[4] Along with in the brain, fibrillin 1 has been localized in the gonads and ovaries of field mice.
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What type of chemical is fibrillin?
Protein
What chromosome is gene located for marfan syndrome?
FBN1 or Fibrillin 1
What is the abnormal protein in Marfan's syndrome?
connective tissue protein fibrillin-1.
What causes Marfan's syndrome?
It is caused by a mutation in the gene for fibrillin-1 on chromosone 15. A variable disorder of the connective tissue that effects many organ systems including the skeleton.eyes,heart,lungs and blood vessels.
Does marfan syndrome affect the aorta?
Yes. Marfan syndrome is a congenital disorder affecting the formation of fibrillin. In Marfan syndrome, the abnormal fibrillin is responsible for many of the findings of the disease. Hyperextensibility/hyperelasticity of joints is one of the hallmark signs. Pectus excavatum is another. People with Marfan syndrome are typically very tall and thin, with very long fingers and toes (arachnodactyly). The fibrillin defect also affects the blood vessels, especially the large arteries, such as the aorta. Disordered fibrillin production causes these arteries to be weaker than normal, predisposing patients with Marfan syndrome to aortic dissections and rupture. This the major cause of death for patients with Marfan syndrome.
What effect does Marfan syndrome have on the body?
It affects the body's production of fibrillin, which is a protein that is an important part of connective tissue.
What is a Marfan Syndrome?
marfan syndrome is genetic disorder of connective tissue of the body. it cause a mutation of the gene that produces the protein fibrillin.
Is the disease marfan syndrome a chromosomal ad normality?
Yes. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.
Why is it not possible to use the FBNI gene to diagnose Marfan syndrome?
It is presently not useful as a diagnostic test because there is evidence that there can be mutations in the fibrillin gene that do not produce Marfan.
Is marfan syndrome a chromosomal abnormality?
Yes it is, the mutation lies on chromosome 15. This carries the code for the structure of fibrillin which is an important part of collagen, the main component of connective tissue.
Is basement membrane part of arteriole?
Yes. The arteriole has different layers of tissue from inside to out: endothelial layer, basement membrane, smooth muscle and then the extra cellular matrix. The basement membrane is composed of collagen and fibrillin.
Why is rapid genetic diagnosis impossible in cases of Marfan syndrome?
Mutations of the fibrillin gene (FBNI) are unique to each family affected by Marfan, which makes rapid genetic diagnosis impossible, given present technology.
