Smith, TG and Brooks, JT and Balanos, GM and Lappin, TR and Layton, DM and Leedham, DL and Liu, C and Maxwell, PH and McMullin, MF and McNamara, CJ and Percy, MJ and Pugh, CW and Ratcliffe, PJ and Talbot, NP and Treacy, M and Robbins, PA (2008) Mutation of the von Hippel-Lindau gene alters human cardiopulmonary physiology. INTEGRATION IN RESPIRATORY CONTROL: FROM GENES TO SYSTEMS , 605 51 - 56.
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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.
| Type: | Article |
|---|---|
| Title: | Mutation of the von Hippel-Lindau gene alters human cardiopulmonary physiology |
| Location: | Lake Louise, CANADA |
| Keywords: | TUMOR-SUPPRESSOR, OXYGEN, HYDROXYLATION |
| UCL classification: | UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Medicine (Division of) |
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