Abraham Lincoln Marfan Syndrome

Abraham Lincoln was shown to have a tall/thin build, a long face, and enormous hands and feet. He shares the same symptoms of an individual suffering from Marfan syndrome. Marfan syndrome is a genetic disease that affects the connective-tissue of an individual. The connective tissues help the human body grow and develop by holding cells, organs, and tissues together. This disease is caused by mutations in a gene called “FBN1”. This gene holds the information to make a protein known as “fibrillin-1”. This protein is responsible for repairing tissues and controlling the growth throughout the body. The FBN1 gene is responsible for this mutation. This gene can reduce the amount of healthy fibrillin-1 proteins, thus resulting in instable tissues

It is extremely important to look out for symptoms of Marfan syndrome. Scientists have been able to discover the symptoms of the syndrome from experimenting on mice. Symptoms include: flat feet, over-flexible joints, scoliosis, thin face, and a funnel chest. The disease may also effect the lens of the eyes due to the weakness of the ligaments. In addition, this disease may affect several internal organs. The lung tissues may develop a pneumothorax. This causes the lungs to collapse by letting air escape into the chest cavity. This disease may affect the heart through aortic dilation. The aorta is a blood vessel that is responsible for transporting blood from the heart to the body. In aortic dilation, the aorta may overstretch or become weak. This is the reason for disease being fatal. Being aware of these symptoms can save a

French physician, Antonie Marfan, discovered this disease in a 5 year old girl. The child had extremely long/thin fingers and arms that resembled a spider. Marfan’s patients shared some things in common. They all had long/thin arms and fingers, they were all thin, and they all had a tall height. On a serious note, Marfan’s patients had an enlarged aorta accompanied with a leaking heart valve. Antonie Marfan saved lives by bringing awareness to the rare disease, thus the disease was named after him. In the late 1990s, researchers have been able to conclude that the disease is inherited from a parent, or developed by a mutated gene. With this discovery, doctors have been able to find possible treatments for Marfan Syndrome. In 1997, scientists started to conduct experiments on bred mice that had Marfan Syndrome. With this experiment, scientists were able to discover that the disease is caused by mutations in the fibrillin-1 gene. They discovered that the mutation disrupts elastic fibers, in the connective tissue, that are still under development. They were able to conclude that this is what causes the patients to have long/thin limbs. Later on, the scientists discovered that the experimental mice had a lower level of fibrillin-1 microfibrils. When examined, the fibers appeared to be normal. The scientist were able to conclude that there is a mutation in the FBN1 gene that reduced the amount of fibrillin that forms