Gene mutation can increase the risk of stroke

Scientists managed to identify a genetic mutation in one of the 23,000 human genes, which can increase the risk of stroke by 42%.

Stroke kills more than six million people worldwide every year. This disease is the second leading cause of death in developed countries. The stroke is characterized by an acutely developing disorder of cerebral circulation causing damage to the brain tissue and affecting its daily functions. The main factors influencing the development of this disease are age, hypertension, heart diseases, transient ischemic attacks, diabetes, smoking, asymptomatic carotid artery stenosis. However, in the course of experiments conducted by scientists in this field, another factor leading to the development of stroke was singled out.

A study of thousands of stroke patients in the UK and Germany indicated a link between the most common type of stroke – ischemic, in which the blood vessels leading to the brain become occluded, and a genetic mutation in a gene known as HDAC9. The blockage of blood vessels, in turn, causes oxygen deficiency and a lack of other vital nutrients to the brain cells. During the experiment, scientists examined the patients who had suffered ischemic stroke and studied all possible genetic variations peculiar to this type of disease. According to statistics, more than 80% of strokes are ischemic. The genetic variations of stroke patients were compared with the results of studying the genes in the control group. The experiment was divided into two stages. The first one involved 3,548 stroke patients and 5,972 healthy participants. At this stage, scientists placed special emphasis on both studying and identification of the gene mutation that could affect the onset of stroke. During the second stage, the data was analyzed with the participation of a new group of patients (5,859) and healthy participants from the control group. Having thoroughly studied the DNA of several thousand patients, scientists identified a new genetic variation that could influence the development of the condition. The new genetic variation was confirmed in 735 cases and 28,583 patients from the control group.

As a result, scientists identified genetic changes in three areas that were somehow mentioned in the previous studies and were interrelated with various subtypes of ischemic stroke. Such changes were found near the genes PITX2 and ZFHX3, as well as in the ninth chromosome. In addition, the genetic variant in a new position in the HDAC9 gene was determined. As noted previously in other studies, this gene is involved in the formation of muscle tissue and heart development. This experiment emphasised its significance in ischemic stroke as well. Thus, based on the fact that some people have 2 copies of each chromosome inherited from both parents, the risk of developing a stroke in this case is almost doubled, namely by 42%.

The identification of this kind of gene mutation indicates the possible influence of genetic changes in the development of stroke. This discovery will help to develop various research screening methods that can identify people at risk of developing ischemic stroke and ensure prevention in advance.

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