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Heart is known as the pump to the body

Heart is known as the pump to the body, which works in co-ordination with valves divided in between the left and the right ventricle. This helped us to analyze the function of this gene in great detail and to define the mechanisms of the disease. But in adulthood, this bicuspid valve can leak or cause premature aortic narrowing, resulting in shortness of breath or abnormal fatigue on exertion,” said Andelfinger. Researchers have discovered a new mechanism involved in a common congenital disease of the aortic valve located in the left ventricle. For example, we can very precisely define China ball valve the type of cell behind the pathology.

Indeed, the data shows that the mutation in patients changes the regulatory mechanism in the valves.According to Dr Gregor Andelfinger, a pediatric cardiologist and researcher at CHU (Centre Hospitalier Universitaire) Sainte-Justine and at Universite de Montreal, the valve diseases can affect one of the hearts four valves — the tricuspid, pulmonary, mitral or aortic valve.”We looked at patients with a bicuspid aortic valve, which is an aortic valve that has only two functional leaflets instead of the usual three. One thing leading to another, an Israeli team of researchers at the Hadassa Hebrew University Medical Center that had identified exactly the same gene contacted Dr Andelfinger and his team, lending support to their hypothesis. Most patients affected by this valve disease are asymptomatic in early life. This really helped us demonstrate the molecular consequences of the mutation,” he added.. The discovery of the genetic causes of some 40 rare diseases by the teams at CHU Sainte-Justine in recent years is a shining example of this expertise.

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