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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 is the abnormal protein in Marfan's syndrome?
connective tissue protein fibrillin-1.
What does a diffective fibrillin protein cause?
A defective fibrillin protein can cause Marfan syndrome, a genetic disorder that affects the body's connective tissue. This can lead to a range of symptoms, including tall stature, long limbs, joint hypermobility, and heart problems such as aortic dilation and dissection.
What chromosome is gene located for marfan syndrome?
The gene associated with Marfan syndrome is located on chromosome 15. It is called the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Mutations in this gene can lead to the characteristic features of Marfan syndrome.
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.
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.
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 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.
What type of mutation causes marfan syndrome?
Marfan syndrome is typically caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. These mutations can result in the production of an abnormal fibrillin-1 protein, leading to the characteristic features of Marfan syndrome such as tall stature, long limbs, and cardiovascular issues.
Is marfan syndrome a chromosomal abnormality?
No, Marfan syndrome is not a chromosomal abnormality. It is a genetic disorder caused by a mutation in the fibrillin-1 (FBN1) gene, which affects the body's connective tissue. This gene is located on chromosome 15.
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 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.
