HSE Researchers Determine Frequency of Genetic Mutations in People with Pulmonary Hypertension
For the first time in Russia, a team of scientists and clinicians has conducted a large-scale genetic study of patients with pulmonary arterial hypertension. The team, which included researchers from the International Laboratory of Bioinformatics at the HSE Faculty of Computer Science, analysed the genomes of over a hundred patients and found that approximately one in ten carried pathogenic mutations in the BMPR2 gene, which is responsible for vascular growth. Three of these mutations were described for the first time. The study has been published in Respiratory Research.
Idiopathic pulmonary arterial hypertension (IPAH) is a rare and poorly understood condition characterised by the gradual narrowing and loss of elasticity of the blood vessels in the lungs. This condition is most commonly associated with mutations in the BMPR2 gene, which regulates cell growth in the walls of blood vessels. Mutations in this gene prevent the receptor it encodes from suppressing excessive cell proliferation, leading to thickening of the pulmonary artery walls, narrowing of the vascular lumen, and reduced blood flow. The heart—particularly the right ventricle, which pumps blood to the lungs—struggles to function properly. As a result, it becomes overworked, and less oxygen enters the bloodstream.
Current treatments for IPAH help slow disease progression and alleviate symptoms but do not address the underlying cause. However, scientists are developing new gene-editing techniques that could potentially target and cure the underlying cause of the disease in the future. It is therefore important for clinicians to understand the prevalence of these mutations and to be able to identify them accurately.
In various countries, mutations in BMPR2 are found in 8% to 50% of patients with IPAH; however, their prevalence in Russia has not yet been studied. The first such study was conducted by researchers from HSE University, Lomonosov Moscow State University, and City Clinical Hospital No. 29 named after N. E. Bauman. As part of the 100,000 Russian Genomes Project, researchers analysed the genetic profiles of 105 IPAH patients—mostly residents of Moscow—who were treated at a specialised care centre over the past ten years. Genetic testing was conducted using whole-genome sequencing, a method that determines the complete sequence of human DNA.
Dmitry Zateyschikov
'Our study is unique for several reasons. First, IPAH is a very rare condition, and it took us nearly ten years to gather a sufficient number of patients. Second, the study included nearly all IPAH patients living in Moscow. Third, whole-genome sequencing offers new opportunities to explore disease mechanisms. Most importantly, we assembled a multidisciplinary team capable of solving problems at the intersection of medicine, bioinformatics, and genetics,' comments Prof. Dmitry Zateyschikov, Head of the Department of Therapy, Cardiology and Functional Diagnostics with a Course of Nephrology at the Central State Medical Academy of the RF Presidential Administration and Head of the Vascular Centre at City Clinical Hospital No.29 named after N.E. Bauman.
The study found that 10.5% of the patients carried pathogenic or likely pathogenic variants of the BMPR2 gene. Three variants were discovered and reported for the first time: one causing the deletion of an exon (a large segment of the gene), another inducing a frameshift mutation that results in a faulty protein, and a third disrupting the RNA splicing process. Additionally, several patients were found to carry pathogenic variants in the ATP13A3, AQP1, and TBX4 genes.
The scientists conducted a large-scale meta-analysis of mutation data by compiling information from 24 studies worldwide. They reassessed the reported frequency of pathogenic variants using uniform criteria and standardised the results with the InterVar tool, which is based on guidelines from the American College of Medical Genetics and Genomics. All 665 genetic variants were classified into five standard categories—pathogenic, likely pathogenic, variants of uncertain significance, likely benign, and benign—following the international classification system. This standardisation enables clinicians worldwide to use a common language when interpreting results.
The reclassification of 665 mutations increased the number of pathogenic and likely pathogenic variants from 394 (59%) to 445 (67%). The meta-analysis found the overall global average frequency of pathogenic BMPR2 variants to be approximately 17.75%, which is comparable to the frequency observed in the Russian population. Thus, international guidelines for diagnosis and treatment can be applied in Russian medical practice, and the findings of Russian researchers can be used worldwide.
Maria Poptsova
'IPAH is not only a rare condition but also a genetically complex one. Even silent mutations that do not cause the disease on their own can contribute to its development when combined with other genetic and environmental factors. This underscores the importance of regularly reassessing genetic information, as the classification of even known mutations can change as new data emerges,' explains Maria Poptsova, Head of the International Laboratory of Bioinformatics at the HSE FCS and co-author of the paper.
The study was conducted with support from HSE University's Basic Research Programme within the framework of the Centres of Excellence project and the Cardiogenetics Research Group at the HSE Faculty of Computer Science.
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