Johnson J, Loyd J, West J
Vanderbilt University, Nashville, TN, USA.
Int J Clin Pract Suppl. 2010 Nov(168):3-4. doi: 10.1111/j.1742-1241.2010.02526.x.
Therapies for idiopathic pulmonary arterial hypertension will need to address the underlying molecular defects, or they will be incapable of halting progression. Identification of the familial PAH gene, BMPR2, and determinants of penetrance in families with BMPR2 mutation, has provided a mechanism for discovering this underlying aetiology not just in those with BMPR2 mutation, but in all patients. These studies suggest that the fundamental defects are in cytoskeletal organization, energy metabolism, and inflammation, with mode of estrogen metabolism acting as the most significant modifier. A detailed understanding of these defects, and a determination of the correct points for intervention, will be required to produce effective treatments for idiopathic PAH.
特发性肺动脉高压的治疗需要针对潜在的分子缺陷，否则将无法阻止疾病进展。家族性肺动脉高压基因BMPR2的发现，以及BMPR2突变家族中基因外显率的决定因素，为揭示这种潜在病因提供了一种机制，不仅适用于携带BMPR2突变的患者，也适用于所有患者。这些研究表明，根本缺陷在于细胞骨架组织、能量代谢和炎症，其中雌激素代谢模式是最重要的修饰因素。要开发出治疗特发性肺动脉高压的有效疗法，需要详细了解这些缺陷，并确定正确的干预点。
