What is the function of fibrillin?
Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue. Fibrillin is secreted into the extracellular matrix by fibroblasts and becomes incorporated into the insoluble microfibrils, which appear to provide a scaffold for deposition of elastin.
What is the role of fibrillin-1 in Marfan syndrome?
Marfan Syndrome The fibrillin-1 gene, also known as FBN1, is necessary for the production of fibrillin-1 monomers. A mutation of this gene prevents the formation of microfibrils, which results in abnormal connective tissues.
What are the four types of fibrillin?
There are three homologous fibrillin molecules (FBN1, FBN2, and FBN3). FBN1 and FBN2 (∼350 kDa) share 80% homology. Disruption of elastic tissue scaffolding due to mutations in FBN1 and FBN2 affects the aorta, eyes, and skin.
What is the role of fibrillin in the production of elastin?
In most tissues, fibrillin microfibrils associate with elastin to form elastic fibres and hence make key contributions to the elastic function of these tissues acting as a stiff reinforcer of elastin-containing tissues. Fibrillin microfibrils also provide limited elasticity in tissues devoid of elastin.
Where is fibrillin found?
Fibrillin is a connective tissue protein found in microfibrils, a constituent of elastic tissue and abundant in tissues affected in Marfan’s syndrome, including the aorta, the suspensory ligament of the lens, and the periosteum.
What happens to fibrillin in Marfan syndrome?
FBN1 gene mutations that cause Marfan syndrome reduce the amount of fibrillin-1 produced by the cell, alter the structure or stability of fibrillin-1, or impair the transport of fibrillin-1 out of the cell. These mutations lead to a severe reduction in the amount of fibrillin-1 available to form microfibrils.
Is fibrillin dominant or recessive?
This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder. At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene.
Is fibrillin a collagen?
Tendon, a complex structure made of collagen fibers constituted by collagen type I and pericellular matrix (PCM) mainly made of elastic fibers (EF): fibrillin 1 and 2, elastin, collagen type VI and others. Adapted from Grant et al.
What is fibrillin protein?
Fibrillin-1 is a large, extracellular matrix glycoprotein that serves as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body.
Is fibrillin a fibrous protein?
Methods in Extracellular Matrix Biology Fibrillins are one of the major components of supramolecular fibrous structures in the extracellular matrix of elastic and nonelastic tissues, termed microfibrils.
What does fibrillin 1 do?
unusually tall height
What gene causes Marfan syndrome?
Heart disease,including aortic aneurysms and problems with heart valves
How the most common DNA mutation happens?
Point Mutations. A point mutation—the change of a single nitrogen base in a DNA sequence —is usually the least harmful type of DNA mutation.
What other name is Marfan syndrome known by?
Marfan syndrome (MFS) is a rare multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have overly-flexible joints and scoliosis. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm.