[Genetics of pulmonary arterial hypertension: recent data and practical applications].
BACKGROUND
Pulmonary arterial hypertension (PAHT) is defined as an increase of mean pulmonary artery pressure above 25 mmHg at rest, or 30 mmHg on exercise, due to obliteration of small calibre pulmonary arteries by proliferation of endothelial cells and smooth muscle. Beside idiopathic PAHT and that associated with other conditions, a familial form has been identified.


BACKGROUND
Family studies have shown an association between mutations of the BMPR2 gene and PAHT phenotypes. The products of this gene appear to be involved in vascular homeostasis and its mutations are the basis of a loss this function and, in consequence, proliferation of pulmonary vascular cells.


CONCLUSIONS
Certain characteristics, such as incomplete penetrance and genetic anticipation, lead to a complex relationship between genotype and phenotype and make genetic counselling difficult. Other members of the extended family of TGF-beta receptors are implicated in the development of the Osler-Rendu syndrome, but may also be associated with the development of PAHT.


CONCLUSIONS
Progress in genetics allows better understanding of the pathophysiology of this disease and could lead to new therapeutic possibilities.
Sztrymf
B
B
UPRES EA 2705, Service de Pneumologie et Réanimation Respiratoire, Centre des Maladies Vasculaires Pulmonaires, Hôpital Antoine Béclère, Assistance publique-hôpitaux de Paris, Université Paris Sud, France. benjamin.sztrymf@abc.aphp.fr
Yaici
A
A
Jaïs
X
X
Simonneau
G
G
Sitbon
O
O
Humbert
M
M
D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics; D005817:Genetic Counseling; D005838:Genotype; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics
D018125:Receptors, Transforming Growth Factor beta; C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II