Pulmonary arterial hypertension (Pulmonary arterial hypertension) - Gen BMPR2
Pulmonary arterial hypertension is a progressive disease characterized by pulmonary artery hypertension. Hypertension occurs when most of the small pulmonary arteries narrow, which increases resistance to blood flow through the lungs. In order to overcome the increased resistance, increased pressure in the pulmonary artery and right ventricle. Ultimately, high blood pressure can damage the heart 's right ventricle.
Signs and symptoms of pulmonary arterial hypertension appear when the pressure increase can not completely overcome the high resistance and blood flow to the body is inadequate. The most common symptoms include shortness of breath during periods of stress and fainting. Affected individuals may present additional symptoms, especially as the disease gets worse. These symptoms include dizziness, edema of the ankles or legs, chest pain and accelerated pulse.
Mutations in BMPR2 (bone morphogenetic protein receptor type 2) gene, located on the long arm of chromosome 2 (2q33-q34), are the most common genetic cause of pulmonary arterial hypertension. This gene encodes a protein called type II receptor bone morphogenetic protein. The BMPR2 gene plays a role in regulating the number of cells in certain tissues. The protein encoded by this gene is placed across the cell membrane, so that one end of the protein is on the outer surface of the cell and the other end remains inside. This arrangement allows the protein to receive and transmit signals that help cell proliferation or apoptosis. This process regulates the number of cells in tissues.
They have identified more than 350 mutations in BMPR2 gene in individuals with pulmonary arterial hypertension. About half of these mutations disrupt mounting type II receptor bone morphogenetic protein, reducing the amount of this protein in the cells. Other mutations prevent the protein reaches the cell surface or alter its structure so that it can not receive or transmit signals. It is unclear how mutations in the gene BMPR2 lead to disease. It is believed that a mutation in this gene promotes cell division or prevents cell death, resulting in an overgrowth of cells in small arteries of the lungs. As a result, the diameter of these arteries narrow, which increases the resistance to blood flow. Blood pressure in the pulmonary artery and the right ventricle of the heart is increased to overcome the increased resistance to blood flow. Other genes that have not been identified may also cause pulmonary arterial hypertension.
This disease is inherited as an autosomal dominant pattern, meaning that each cell has an altered copy BMPR2 gene. However, some people with BMPR2 altered gene never develop symptoms of the disease. Most cases of pulmonary hypertension, occur in individuals with a known family history of the disease. These cases are known as idiopathic pulmonary hypertension. Some idiopathic cases are due to mutations in the gene BMPR2, but in most cases has not been identified a genetic mutation.
Tests in IVAMI: in IVAMI perform detection of mutations associated with pulmonary arterial hypertension, by complete PCR amplification of exons BMPR2 gene, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).