Genetic diseases: Marfan syndrome

Definition :

In today's post about genetic diseases we will talk about Marfan syndrome, which is a disease that affects the Connective tissue . Connective tissue is made up of proteins that support the skin, bones, blood vessels, and other organs. It serves as the "bonding" for all cells, giving shape to organs, muscles, blood vessels, and so on. It also has other important functions, such as development and growth before and after birth, and cushioning the joints.

Causes :

Marfan syndrome is a disease caused by a genetic alteration on chromosome 15. Mutations in genes on this chromosome cause alterations in the proteins that form part of connective tissue. Marfan syndrome most commonly affects the heart, eyes, blood vessels, and skeleton. Because it is a genetic disease, the greatest risk factor for Marfan syndrome is having one of the parents with the disorder.

Genetics of the disease:

Marfan disease is caused by mutations in the gene FBN1 of the chromosome 15 which allows the body to produce a protein (fibrillin) that helps give connective tissue elasticity and strength. When the fibrillin gene mutates, changes occur in some fibers and other parts of the connective tissue, ultimately weakening it.

Symptoms :

People with Marfan syndrome are usually very tall, thin, and have flexible joints. Most have heart and blood vessel problems, such as a weak aorta or leaky heart valves. They may also have problems with their bones, eyes, skin, nervous system, and lungs.

Diagnosis :

Medical history, family history, and a physical examination can be used to diagnose the disease. The syndrome has no cure, but treatments can help delay or prevent complications. These include medications, surgery, and other therapies. Genetic evaluation also confirms the diagnosis through testing for fibrillin mutations. www.genotica.com We have tests that study this disease and its related mutations, such as the test NGS-SEQ+CNVs – MARFAN SYNDROME from Lorgen.

Treatment :

Currently, there is no cure for Marfan syndrome, as there is no way to correct the connective tissue abnormalities. Medications such as beta-blockers, which slow the heart rate and force of cardiac contractions, can be used, or severe valvular insufficiency and spinal curvature can be surgically repaired.