[Mutations of genes coding for TGF-beta receptors (BMPR2 and ALK-1) in primary pulmonary arterial hypertension].
Pulmonary hypertension is defined by an elevation in pulmonary artery pressure leading to progressive right heart failure and death. Primary (idiopathic) pulmonary hypertension (PPH) is a rare disease with an estimated incidence of 2 per million inhabitants per year in France. Abnormal pulmonary artery angiogenesis is a characteristic feature of this condition including endothelial and smooth muscle cell proliferation in small to medium-sized pulmonary arteries. The recent discovery of germline mutations of genes coding for receptor members of TGF-beta (BMPR-2 et ALK-1) in PPH represents a considerable progress in the understanding of this pulmonary orphan disease. This review summarizes the current genetic data obtained in this condition.
Humbert
Marc
M
UPRES EA 2705, Service de Pneumologie et Réanimation Respiratoire, Centre des Maladies Vasculaires Pulmonaires, Hôpital Antoine Béclère, Assistance-Publique-Hôpitaux de Paris, 157, rue de la Porte de Trivaux, 92140 Clamart. humbert@ipsc.u-psud.fr
D030201:Activin Receptors, Type I / Q000235:genetics*; D030301:Activin Receptors, Type II; D000818:Animals; D052006:Bone Morphogenetic Protein Receptors, Type II; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics*; D051379:Mice; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*
D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; C425364:ACVRL1 protein, human; D030201:Activin Receptors, Type I; D030301:Activin Receptors, Type II; C498931:Acvrl1 protein, mouse; C498218:BMPR2 protein, human; C498219:Bmpr2 protein, mouse; D052006:Bone Morphogenetic Protein Receptors, Type II