Individuals with a condition known as Chuvash polycythemia, which is caused by a specific mutation in the protein VHL, have a greater proportion of their blood volume occupied by red blood cells than do healthy individuals. They also have pulmonary hypertension (i.e., increased blood pressure in the blood vessels that go to and from the lung) and increased respiratory rates, although the mechanistic basis for these symptoms has not been determined. Now, researchers have identified a role for the protein HIF-2-alpha in the lung complications of Chuvash polycythemia by studying mice that model the condition.
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