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Role for the protein HIF-2-alpha in Chuvash polycythemia

Date:
February 8, 2010
Source:
Journal of Clinical Investigation
Summary:
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.

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, Celeste Simon and colleagues, at the University of Pennsylvania School of Medicine, Philadelphia, have identified a role for the protein HIF-2-alpha in the lung complications of Chuvash polycythemia by studying mice that model the condition.

Of particular interest, HIF-2-alpha activity was found to be increased in lungs from mice that model Chuvash polycythemia.

Further, as loss of one copy of the gene responsible for generating HIF-2-alpha in mice that model Chuvash polycythemia suppressed both the polycythemia and pulmonary hypertension, the authors suggest that inhibiting HIF-2-alpha might provide a new approach to treat Chuvash disease.

The research appears in the Journal of Clinical Investigation.


Story Source:

The above story is based on materials provided by Journal of Clinical Investigation. Note: Materials may be edited for content and length.


Journal Reference:

  1. Michele M. Hickey, Theresa Richardson, Tao Wang, Matias Mosqueira, Evguenia Arguiri, Hongwei Yu, Qian-Chun Yu, Charalambos C. Solomides, Edward E. Morrisey, Tejvir S. Khurana, Melpo Christofidou-Solomidou and M. Celeste Simon. The von Hippel-Lindau Chuvash mutation promotes pulmonary hypertension and fibrosis in mice. Journal of Clinical Investigation, 2010; DOI: 10.1172/JCI36362

Cite This Page:

Journal of Clinical Investigation. "Role for the protein HIF-2-alpha in Chuvash polycythemia." ScienceDaily. ScienceDaily, 8 February 2010. <www.sciencedaily.com/releases/2010/02/100208215309.htm>.
Journal of Clinical Investigation. (2010, February 8). Role for the protein HIF-2-alpha in Chuvash polycythemia. ScienceDaily. Retrieved September 30, 2014 from www.sciencedaily.com/releases/2010/02/100208215309.htm
Journal of Clinical Investigation. "Role for the protein HIF-2-alpha in Chuvash polycythemia." ScienceDaily. www.sciencedaily.com/releases/2010/02/100208215309.htm (accessed September 30, 2014).

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