Marfan Syndrome. Reasons

Click here to learn more about the treatment of this disease and get complete information about other conditions: age2b.com/age2b-diseases More information on our website: bit.ly/3AwsmHw The DNA contains genetic information about the structure of proteins in the human body. It is packed in chromosomes inside the cell nucleus.
Normal human cells have 23 pairs of chromosomes.
Mutations on chromosome 15, in the FBN1 gene, cause Marfan syndrome.
The FBN1 gene encodes fibrillin-1 - a protein that determines the formation of elastic fibers and, as a result, the connective tissues.
Changes in connective tissues lead to the unique characteristics and symptoms of Marfan syndrome, especially those that affect the eyes, aorta and the heart.
Due to low levels of fibrillin-1, transforming growth factor beta becomes abnormally active. This leads to the deterioration of elastic fibers and abnormal growth of the extremities, toes, and fingers.