Mutation Cause Aortic Valve Disease

Researchers of the UT Southwestern Medical Center have linked a serious cause of aortic value disease by identifying a mutation in gene that seems to be responsible for aortic value disease. A study was conducted by scanning 11 members of a family DNA’s that were affected with disease. Patients were children and 50-60 years old people who had valves problem due to backlog of calcium in the values.  All patients had a mutation on gene called NOTCH1 which cause the aortic value disease. The NOTCH1 gene is very important in developing organ of the body, mainly found in heart and especially in the heart value development.

Normally, aortic valve has 3 leaflets which allow body to flow through the value by closing and opening of the value. However, some child born with an irregular value that has two values instead of three values which called a bicuspid value defect. The Notch1 gene controls calcium pumping in the heart so people that born with the bicuspid aortic value will not pump calcium properly. More likely, calcium will start building up in the value which has difficulty in blood to flow in body. Researchers were looking forward for better treatment of this disease and how to prevent them from calcium to buildup in the value. The NOTCH1 protein controls the bone development, and it offers a hint for understanding how come tissues became irregular calcified. This is really interesting article and I hope that scientist find better treatment for this aortic value disease.