Fibrillin sentence example
It affects the body's production of fibrillin, which is a protein that is an important part of connective tissue.
Fibrillin is the primary component of the microfibrils that allow tissues to stretch repeatedly without weakening.
Because the child's fibrillin is abnormal, his or her connective tissues are looser than usual, which weakens or damages the support structures of the entire body.
The rate of mutation of the fibrillin gene, however, appears to be related to the age of the child's father; older fathers are more likely to have new mutations appear in chromosome 15.
Marfan syndrome is caused by a single gene for fibrillin on chromosome 15, which is inherited in most cases from an affected parent.Advertisement
Mutations of the fibrillin gene (FBNI) are unique to each family affected by Marfan, which makes rapid genetic diagnosis impossible, given present technology.
This term means that the mutated fibrillin gene can produce a variety of symptoms of very different degrees of severity, even in members of the same family.
Because of the abnormalities of the child's fibrillin, the walls of the aorta (the large blood vessel that carries blood away from the heart) are weaker than normal and tend to stretch and bulge out of shape.
In Marfan's syndrome, the gene responsible for fibrillin has mutated, causing the body to produce a defective protein.