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Updated: Feb 13, 2026
Hemodynamic Characterization of Rodent Models of Pulmonary Arterial Hypertension
Published on: April 11, 2016
Pulmonary arterial hypertension associated to systemic erythematosus lupus: molecular characterization of 3 cases
Guillermo Pousada1, Mauro Lago-Docampo2, Adolfo Baloira3
1Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, España; Instituto de Investigación Biomédica de Ourense-Pontevedra-Vigo (IIS Galicia Sur), Pontevedra, España; Centro de Investigaciones Biomédicas (CINBIO) (Centro Singular de Investigación de Galicia), Universidad de Vigo, Pontevedra, España.
Background And Objective:
Pulmonary arterial hypertension associated with systemic lupus erythematosus (PAH-SLE) is a rare disease with a low incidence rate. In this study, PAH related genes and genetic modifiers were characterised molecularly in patients with PAH-SLE.
Patients And Methods:
Three patients diagnosed with PAH-SLE and 100 control individuals were analysed after signing an informed consent.
Results:
Two out of the three analysed patients with PAH-SLE were carriers of pathogenic mutations in the genes BMPR2 and ENG. After an in silico analysis, pathogenic mutations were searched for in control individuals and different databases, with negative results, and they were thus functionally analysed. The third patients only showed polymorphisms in the genes BMPR2, ACVRL1 and ENG. Several genetic variants and genetic modifiers were identified in the three analysed patients. These modifiers, along with the pathogenic mutations, could lead to a more severe clinical course in patients with PAH.
Conclusions:
We present, for the first time, patients with PAH-SLE carrying pathogenic mutations in the main genes related to PAH and alterations in the genetic modifiers.
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