Molecular genetics of pulmonary hypertension

Southgate, Laura and Machado, Rajiv D. (2011) Molecular genetics of pulmonary hypertension. In: eLS (originally known as the Encyclopedia of Life Sciences). John Wiley & Sons, Ltd., Chichester. ISBN 9780470015902

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Pulmonary arterial hypertension (PAH) is a progressive vascular disorder with high levels of mortality and morbidity. Approximately 10% of PAH patients have a family history of disease in which the disease segregates as an autosomal dominant trait. Employing a classical positional cloning approach comprising microsatellite linkage analysis and candidate gene screening, the causal gene for PAH in families was identified as BMPR2, encoding a type II receptor of the transforming growth factor beta (TGF-β) signalling network. Subsequent functional investigation has revealed the molecular mechanisms of disease and together with protein–protein interaction studies underpinned key factors in disease progression. Taken together with the recent discovery of rare mutations in additional members of the TGF-β family these data have served to underline the central importance of this pathway in the development and maintenance of the pulmonary vasculature.

Keywords:Pulmonary arterial hypertension, Genetics
Subjects:C Biological Sciences > C440 Molecular Genetics
Divisions:College of Science > School of Life Sciences
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ID Code:7002
Deposited On:01 Dec 2012 23:23

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