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Gene Mutation Linked With Risks of Stroke

A Danish study shows that if you happen to posses a certain gene mutation, your risks of getting a stroke// double.

The gene in question is a specific variation for hereditary hemochromatosis. This is an autosomal recessive disease associated with increased iron accumulation, which affects how the body metabolizes iron, which results an iron build-up in the liver.

Without treatment, the condition causes liver enlargement that can lead to cirrhosis or liver cancer. The disease can also cause diabetes, heart disease, arthritis, and other serious conditions.

The study focused on two variations in the hemochromatosis gene - H63D and C282Y.

The report published the journal Neurology, says that of all the various combinations of these mutations, only patients with two copies of H63D were found to have a significantly increased risk of cerebrovascular disease and ischemic stroke (a stroke caused by a blockage in an artery in the brain, which cuts off the blood supply).

Says senior author Borge G. Nordestgaard, from Herlev University Hospital: “This type of gene has previously been associated with brain diseases such as Alzheimer's disease, Parkinson disease, ALS, multiple sclerosis, and cerebrovascular disease, but this is the first time we've been able to determine this gene predicts such a significant increased risk of stroke".

The researchers followed the health of 9,178 people over 24 years. Of the sample 393 had a stroke during that time. Those with a particular mutation to the HFE gene (also known as the haemochromatosis gene) were found to be two to three times more likely to develop the condition.

Yet, the researchers do not know how this genetic defect, which is carried by about a quarter of people in northern Europe, might cause a stroke. They agree that its involvement may give researchers new leads for understanding and preventing strokes as well as the potential for genetic tests to predict who is most at risk.

Strokes are the leading cause of disability in the UK and the third most common cause of death after cancer and heart disease. Smoking, obesity, excessive alcohol intake, lacks of exercise, diabetes, high blood cholesterol and high blood pressure is all known to increase the risk.
ANN
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