The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension

Machado, Rajiv (2012) The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension. Scientifica, 2012 . ISSN 2090-908X

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Pulmonary arterial hypertension (PAH) is an incurable disorder clinically characterised by a sustained elevation of mean arterial pressure in the absence of systemic involvement. As the adult circulation is a low pressure, low resistance system, PAH represents a reversal to a foetal state. The small pulmonary arteries of patients exhibit luminal occlusion resultant from the uncontrolled growth of endothelial and smooth muscle cells. This vascular remodelling is comprised of hallmark defects, most notably the plexiform lesion. PAH may be familial in nature but the majority of patients present with spontaneous disease or PAH associated with other complications. In this paper, the molecular genetic basis of the disorder is discussed in detail ranging from the original identification of the major genetic contributant to PAH and moving on to current next-generation technologies that have led to the rapid identification of additional genetic risk factors. The impact of identified mutations on the cell is examined, particularly, the determination of pathways disrupted in disease and critical to pulmonary vascular maintenance. Finally, the application of research in this area to the design and development of novel treatment options for patients is addressed along with the future directions PAH research is progressing towards.

Keywords:Pulmonary arterial hypertension, molecular genetics, Luminal occlusion, Endothelial cells, Smooth muscle cells, oaopen
Subjects:B Subjects allied to Medicine > B131 Cellular Pathology
C Biological Sciences > C440 Molecular Genetics
Divisions:College of Science > School of Life Sciences
ID Code:13438
Deposited On:28 Feb 2014 09:42

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