Genetic Cause Found for Clogged Arteries

It is believed that blood pressure and cholesterol levels are not the most accurate way of assessing the risk of heart attack and stroke. Instead, it is now said that measuring calcium build-up in the arteries gives a better indicator of the likelihood of heart problems. Calcium build-up in the arteries marks the calcification of plaque, which results in hardening that can lead to heart attacks. Recently, it has been found that a genetic variation increases one’s risk of developing these deposits in the heart. This variation gives us essential clues as to how we should treat the disease that is found in nearly 7% of the world’s population. Wendy Post, from the Johns Hopkins University School of Medicine said “The latest findings could lead to the development of targeted medications to slow the progression of the disease, which can cause chest pain and shortness of breath, and can in some cases require surgery”.

 The gene that is currently being looked at is involved in the production of lipoprotein, a type of cholesterol particle that circulates in the blood. It has been said that high levels of lipoproteins are connected aortic valve disease. But, in previous years, scientists were not able to determine if it was just a marker of the disease or a casual factor. “Our results provide the first evidence for a casual relationship,” exclaimed Wendy. After surveying around 7,000 people, and looking at 2.5 million gene variants, it was found that the particular variant was strongly associated with the aortic calcium deposits.

When looking around for articles this one particularly caught my eye because a few years ago my dad found out that he had severely clogged arteries. After reading through this article, it was interesting to learn that a genetic variation could have likely been the cause for his blockage. With these new findings that there is the possibility for developing medications to target and slow the progression of the calcium deposits. It’s exciting that these findings have the potential to go on and affect the future of diagnosing and treating aortic valve disease.

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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.