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Published on: August 15, 2019
[Mutations in the gene encoding bone morphogenetic protein receptor 2 in patients with idiopathic pulmonary arterial
Adolfo Baloira1, Carlos Vilariño, Virginia Leiro
1Servicio de Neumología, Complexo Hospitalario de Pontevedra, Mourente, Pontevedra, Spain. adolfobaloira@sogapar.org
Objective:
Pulmonary arterial hypertension (PAH) is a rare disease that can have a familial component. It has been shown that more than 50% of cases of familial PAH are associated with mutations in the gene encoding bone morphogenetic protein receptor 2 (BMPR2), which acts as a receptor for members of the transforming growth factor beta superfamily. Some studies in patients with idiopathic PAH have also shown varying percentages of mutations in this gene. The aim of this study was to determine the frequency of these mutations in a group of patients with idiopathic PAH.
Patients And Methods:
The study population included patients with idiopathic PAH who were seen during 2006 in our unit specialized in this entity. Patients were excluded if they had relatives who had been diagnosed with PAH or who had symptoms that led to suspicion of the disease. Diagnosis was obtained according to the protocol used in our unit. A hemodynamic study was carried out in all cases and patients were included if they had a mean pulmonary arterial pressure of greater than 25 mm Hg. DNA was extracted from peripheral leukocytes and amplified by polymerase chain reaction. Seventeen primer pairs were used for the 13 exons that make up the gene. Using the single strand conformational polymorphism (SSCP) technique we detected anomalous DNA fragments for subsequent sequencing.
Results:
The study included 8 patients (4 women). In 5 patients, no abnormalities were observed, whereas in the remaining 3, anomalous electrophoresis patterns were obtained in the SSCP and sequencing revealed mutations. In 1 case, 2 different electrophoresis patterns were observed by SSCP, but it was only possible to sequence 1 of them due to the low concentration of DNA obtained.
Conclusions:
The presence of mutations in the gene encoding BMPR2 is not infrequent in patients with idiopathic PAH, suggesting that this family of growth factors may be important in the pathogenesis of the disease and could have therapeutic implications.
Insights
Mutations in the bone morphogenetic protein receptor 2 (BMPR2) gene are not uncommon in patients with idiopathic pulmonary arterial hypertension (PAH). This suggests BMPR2
Area of Science:
- Genetics
- Molecular Biology
- Cardiovascular Medicine
Context:
- Pulmonary arterial hypertension (PAH) is a rare disease with a potential familial link.
- Mutations in the bone morphogenetic protein receptor 2 (BMPR2) gene are implicated in familial PAH.
- Previous studies suggest BMPR2 mutations may also occur in idiopathic PAH.
Purpose:
- To determine the frequency of BMPR2 gene mutations in patients diagnosed with idiopathic PAH.
- To investigate the role of BMPR2 in the pathogenesis of idiopathic PAH.
Summary:
- The study analyzed 8 patients with idiopathic PAH.
- DNA analysis using single-strand conformational polymorphism (SSCP) and sequencing identified BMPR2 mutations in 3 of the 8 patients.
- This indicates a notable frequency of BMPR2 mutations in this patient group.
Impact:
- BMPR2 mutations are a significant factor in idiopathic PAH, not just familial cases.
- These findings highlight the importance of the transforming growth factor beta superfamily in PAH pathogenesis.
- Identifying these mutations may lead to future therapeutic strategies for PAH.
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