Chapter title |
Mutation of the von Hippel-Lindau gene alters human cardiopulmonary physiology.
|
---|---|
Chapter number | 9 |
Book title |
Integration in Respiratory Control
|
Published in |
Advances in experimental medicine and biology, January 2008
|
DOI | 10.1007/978-0-387-73693-8_9 |
Pubmed ID | |
Book ISBNs |
978-0-387-73692-1, 978-0-387-73693-8
|
Authors |
Smith, T G, Brooks, J T, Balanos, G M, Lappin, T R, Layton, D M, Leedham, D L, Liu, C, Maxwell, P H, McMullin, M F, McNamara, C J, Percy, M J, Pugh, C W, Ratcliffe, P J, Talbot, N P, Treacy, M, Robbins, P A, T. G. Smith, J. T. Brooks, G. M. Balanos, T. R. Lappin, D. M. Layton, D. L. Leedham, C. Liu, P. H. Maxwell, M. F. McMullin, C. J. McNamara, M. J. Percy, C. W. Pugh, P. J. Ratcliffe, N. P. Talbot, M. Treacy, P. A. Robbins |
Abstract |
Intracellular responses to hypoxia are coordinated by the von Hippel-Lindau--hypoxia-inducible factor (VHL-HIF) transcriptional system. This study investigated the potential role of the VHL-HIF pathway in human systems-level physiology. Patients diagnosed with Chuvash polycythaemia, a rare disorder in which VHL signalling is specifically impaired, were studied during acute hypoxia and hypercapnia. Subjects breathed through a mouthpiece and ventilation was measured while pulmonary vascular tone was assessed echocardiographically. The patients were found to have elevated basal ventilation and pulmonary vascular tone, and ventilatory, pulmonary vasoconstrictive and heart rate responses to acute hypoxia were greatly increased, as were heart rate responses to hypercapnia. The patients also had abnormal pulmonary function on spirometry. This study's findings demonstrate that the VHL-HIF signalling pathway, which is so central to intracellular oxygen sensing, also regulates the organ systems upon which cellular oxygen delivery ultimately depends. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 4% |
United States | 1 | 4% |
Unknown | 26 | 93% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 5 | 18% |
Professor | 3 | 11% |
Student > Ph. D. Student | 3 | 11% |
Researcher | 3 | 11% |
Student > Doctoral Student | 2 | 7% |
Other | 7 | 25% |
Unknown | 5 | 18% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 14 | 50% |
Biochemistry, Genetics and Molecular Biology | 2 | 7% |
Chemistry | 2 | 7% |
Agricultural and Biological Sciences | 2 | 7% |
Business, Management and Accounting | 1 | 4% |
Other | 0 | 0% |
Unknown | 7 | 25% |