Berita Kesehatan
T-box protein 4 mutation causing pulmonary arterial hypertension and lung disease
Rabu, 12 Jun 2019 09:50:33

Arnaud MauracÉmilie LardenoisMélanie EyriesMaria Rosa GhignaIsabelle PetitDavid MontaniAnne GuillaumotBrice CaputFrançois ChabotAri Chaouat

European Respiratory Journal 2019; DOI: 10.1183/13993003.00388-2019

Extract

Pulmonary arterial hypertension (PAH) is a progressive disease mainly characterised by a widespread obstruction of distal pulmonary arteries [1]. Untreated, this disease rapidly leads to right heart failure, then to death [2]. Heritable PAH (hPAH) represents about 30% of PAH cases, and this category includes familial forms with or without identified mutations, and sporadic forms carrying a mutation. The first genetic abnormalities discovered in hPAH are bone morphogenetic protein receptor-2 (BMPR2) mutations. Loss of function of this receptor results in proliferation of vascular smooth muscle cells and selection of endothelial cell clones resistant to apoptosis [3].

Footnotes

This manuscript has recently been accepted for publication in the European Respiratory Journal. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article.

Conflict of interest: Dr. Maurac has nothing to disclose.

Conflict of interest: Dr. Lardenois has nothing to disclose.

Conflict of interest: Dr. EYRIES has nothing to disclose.

Conflict of interest: Maria Rosa Ghigna

Conflict of interest: Dr. PETIT has nothing to disclose.

Conflict of interest: Dr. MONTANI reports grants and personal fees from Actelion, grants and personal fees from Bayer, personal fees from GSK, personal fees from MSD, personal fees from Pfizer, outside the submitted work.

Conflict of interest: Dr. GUILLAUMOT has nothing to disclose.

Conflict of interest: Dr. Caput has nothing to disclose.

Conflict of interest: Dr. CHABOT has nothing to disclose.

Conflict of interest: Dr. Chaouat has nothing to disclose.