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Olschewski, A; Schermuly, RT; Pullamsetti, S; Nagaraj, C; Dorfmüller, P; Eichstaedt, CA; Foris, V; Graef, S.
Pathobiology and genetics of pulmonary hypertension
Z PNEUMOLOGIE. 2025; Doi: 10.1007/s10405-025-00628-6
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Leading authors Med Uni Graz: Olschewski Andrea
Co-authors Med Uni Graz: Chandran Nagaraj; Foris Vasile
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Abstract:: Pulmonary arterial hypertension (PAH) is a complex vascular disease characterized by pronounced pathobiological and genetic heterogeneity. At the 7th World Symposium on Pulmonary Hypertension (7thWSPH), new insights into key mechanisms such as vascular remodeling, epigenetic modifications, metabolic dysregulation and ion channel alterations were presented. Advances in genetics, transcriptomics, epigenetics, and multiomics integration enable a deeper understanding of molecular processes and open new therapeutic perspectives. It is becoming increasingly clearer that these pathobiological processes cannot be viewed in isolation but are closely interlinked with genetic predispositions and individual exposure to risk factors. The integration of modern molecular analyses into pathophysiological research provides the foundation for a more comprehensive understanding of disease development and progression. In particular, rare genetic variants in genes, such as BMPR2, TBX4 or SOX17 provide valuable insights into individual disease susceptibility and highlight the potential of personalized treatment approaches. This review summarizes the current pathobiological and genetic concepts and discusses future research priorities as well as the need for diverse, international patient cohorts.
Find related publications in this database (Keywords): Pathobiological mechanisms; Multiomics integration; Personalized therapy; Genetic predisposition; Translational research; Pathobiological mechanisms; Multiomics integration; Personalized therapy; Genetic predisposition; Translational research