Fibrillin is a protein that adds elasticity and strength to connective tissue and plays a role in the development of eyes, blood vessels, and skin. Faulty fibrillin genes can cause connective tissue disorders, such as Marfan syndrome and Beal syndrome. Treatment options include supportive care, medications, and regular checkups. Genetic testing can help identify variations in the FBN1 gene.
Fibrillin is a protein produced by the body that plays an important role in the connective tissues of the body, including muscles and cartilage. At least three types of this protein have been recognized, all of which act in slightly different ways. People who have inherited faulty fibrillin genes develop connective tissue disorders caused by inadequate amounts of fibrillin in the body or by fibrillin not working as it should, depending on the nature of the genetic changes they inherit.
This glycoprotein adds elasticity and strength to connective tissue and also plays a role in the development of eyes, blood vessels and skin. In the case of fibrillin-1, one of the most studied forms of this protein, the genes responsible for the production of fibrillin are located on the 15th chromosome and are known as FBN1. People can order genetic testing through a DNA lab to look for variations in their FBN1 gene if they’re worried they have a connective tissue disorder or are concerned about passing something on to a child.
Variations in the FBN1 gene can lead to Marfan syndrome, a connective tissue disorder characterized by a weakened heart and the overgrowth of long bones. Patients may also experience vascular abnormalities and vision problems. Depending on the type of inherited variation, people can experience a wide variety of symptoms caused by abnormal fibrillin production. The gene is dominant, so a child needs to inherit only one bad gene to develop Marfan syndrome. Sometimes spontaneous mutations appear on the 15h chromosome of a parent, leading to a less severe form of the condition.
Changes on the fibrillin-2 gene can lead to Beal syndrome, another type of connective tissue disorder. Historically, this condition has often been confused with Marfan syndrome because the symptoms are similar, but genetic testing has revealed the genetic roots of the condition and the fact that it was in fact different.
The treatment options available to people who have unusual fibrillin genes vary. The condition cannot be cured, but it can be managed with supportive care, medications, and regular checkups to watch for early signs of common complications. For example, regular eye exams may be used to identify vision changes that could indicate the need for intervention such as surgery. People with abnormal fibrillin genes may also wish to speak with a genetic counselor to discuss decisions about whether or not to have children.
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