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Reduction of BMPR2 mRNA Expression in Peripheral Blood of Pulmonary Arterial Hypertension Patients: A Marker for Disease Severity?
Theobald, Vivienne; Benjamin, Nicola; Seyfarth, Hans-Jürgen; Halank, Michael; Schneider, Marc A; Richtmann, Sarah; Hinderhofer, Katrin; Xanthouli, Panagiota; Egenlauf, Benjamin; Seeger, Rebekka; Hoeper, Marius M; Jonigk, Danny; Grünig, Ekkehard; Eichstaedt, Christina A.
Afiliação
  • Theobald V; Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital, 69126 Heidelberg, Germany.
  • Benjamin N; Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), 69120 Heidelberg, Germany.
  • Seyfarth HJ; Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital, 69126 Heidelberg, Germany.
  • Halank M; Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), 69120 Heidelberg, Germany.
  • Schneider MA; Department of Pneumology, Medical Clinic II, University Hospital of Leipzig, 04103 Leipzig, Germany.
  • Richtmann S; Medical Clinic I, University Hospital of Dresden, 01307 Dresden, Germany.
  • Hinderhofer K; Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), 69120 Heidelberg, Germany.
  • Xanthouli P; Translational Research Unit, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital, 69126 Heidelberg, Germany.
  • Egenlauf B; Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), 69120 Heidelberg, Germany.
  • Seeger R; Translational Research Unit, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital, 69126 Heidelberg, Germany.
  • Hoeper MM; Division of Systems Biology of Signal Transduction, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
  • Jonigk D; Laboratory for Molecular Diagnostics, Institute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany.
  • Grünig E; Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital, 69126 Heidelberg, Germany.
  • Eichstaedt CA; Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), 69120 Heidelberg, Germany.
Genes (Basel) ; 13(5)2022 04 26.
Article em En | MEDLINE | ID: mdl-35627145
Pulmonary arterial hypertension (PAH) can be caused by pathogenic variants in the gene bone morphogenetic protein receptor 2 (BMPR2). While BMPR2 protein expression levels are known to be reduced in the lung tissue of heritable PAH (HPAH) patients, a systematic study evaluating expression in more easily accessible blood samples and its clinical relevance is lacking. Thus, we analyzed the BMPR2 mRNA expression in idiopathic/HPAH patients and healthy controls in blood by quantitative polymerase chain reaction and protein expression by enzyme-linked immunosorbent assay. Clinical parameters included right heart catherization, echocardiography, six-minute walking test and laboratory tests. BMPR2 variant-carriers (n = 23) showed significantly lower BMPR2 mRNA expression in comparison to non-carriers (n = 56) and healthy controls (n = 30; p < 0.0001). No difference in BMPR2 protein expression was detected. Lower BMPR2 mRNA expression correlated significantly with greater systolic pulmonary artery pressure and pulmonary vascular resistance. Higher BMPR2 mRNA expression correlated with greater glomerular filtration rate, cardiac index and six-minute walking distance. We demonstrated the feasibility to assess BMPR2 expression in blood and, for the first time, that BMPR2 mRNA expression levels are significantly reduced in variant carriers and correlated with clinical parameters. Further studies may evaluate the usefulness of BMPR2 mRNA expression in blood as a new marker for disease severity.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hipertensão Arterial Pulmonar / Hipertensão Pulmonar Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Suíça

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hipertensão Arterial Pulmonar / Hipertensão Pulmonar Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Suíça