Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred

Article Abstract:

Many cases of primary pulmonary hypertension may be genetic, according to a study of 67 families over a 20-year period. A mutation in the gene for bone morphogenetic protein receptor II was found in several family members with the disease.

Health aspects, Gene mutations, Gene mutation, Bone morphogenetic proteins

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Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia

Article Abstract:

A mutation in the gene for activin-receptor-like kinase 1 (ALK1) appears to be linked to primary pulmonary hypertension and hereditary hemorrhagic telangiectasia. Both of these conditions are cause by abnormal blood vessels.

Telangiectasia, Hereditary Hemorrhagic, Hereditary hemorrhagic telangiectasia

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An imbalance between the excretion of thromboxane and prostacyclin metabolites in pulmonary hypertension

Article Abstract:

Patients with pulmonary (lungs) hypertension may release increased levels of thromboxane A2 and decreased levels of prostacyclin. Pulmonary hypertension is a progressive disease characterized by increased blood clotting, and increased blood vessel constriction in the lungs. Urinary excretion of the metabolic products of thromboxane A2 and prostacyclin was measured over a 24-hour period in 34 patients with pulmonary hypertension, nine patients with chronic obstructive pulmonary disease (COPD) without pulmonary hypertension and 23 healthy individuals. Patients with pulmonary hypertension excreted higher levels of one metabolic product of thromboxane A2, compared with healthy individuals. Excretion of a metabolic product of prostacyclin was decreased in patients with pulmonary hypertension, compared with healthy individuals. Excretion of metabolic products among COPD patients was similar to that of the healthy individuals. Thromboxane A2 enhances blood clotting and constriction of blood vessels, and prostacyclin counteracts these processes.

Physiological aspects, Thromboxanes, Prostacyclin

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