In primary pulmonary hypertension basic abnormality in gene lies in –
**Core Concept**
Primary pulmonary hypertension (PPH) is a rare and severe form of high blood pressure that affects the arteries in the lungs. The primary abnormality in PPH is related to the genetic mutation affecting the function of the pulmonary vasculature, leading to vasoconstriction and vascular remodeling.
**Why the Correct Answer is Right**
The correct answer involves the BMPR2 gene, which encodes the bone morphogenetic protein receptor type 2. This receptor plays a crucial role in the signaling pathway that regulates the growth and differentiation of pulmonary artery smooth muscle cells. Mutations in the BMPR2 gene are a common cause of familial PPH and are also found in a significant proportion of patients with sporadic PPH. These mutations lead to the constitutive activation of the receptor, resulting in the uncontrolled growth and proliferation of pulmonary artery smooth muscle cells, which contributes to the development of PPH.
**Why Each Wrong Option is Incorrect**
**Option A:** Incorrect, as the primary abnormality in PPH is not related to the endothelin-1 gene, although endothelin-1 is involved in the pathophysiology of PPH.
**Option B:** Incorrect, as the primary abnormality in PPH is not related to the serotonin transporter gene, although serotonin is involved in the pathophysiology of PPH.
**Option C:** Incorrect, as the primary abnormality in PPH is not related to the endothelial nitric oxide synthase (eNOS) gene, although nitric oxide is involved in the regulation of pulmonary vascular tone.
**Clinical Pearl / High-Yield Fact**
It's essential to remember that mutations in the BMPR2 gene are a common cause of familial PPH, and patients with a family history of PPH should be evaluated for genetic testing.
**Correct Answer: C.**