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Functional assessment of the BMPR2 gene in lymphoblastoid cell lines from Graves' disease patients
Guillermo Pousada1,2, Mauro Lago-Docampo1, Sonia Prado1,2
1Department of Biochemistry, Genetics and Immunology, Faculty of Biology, University of Vigo, Vigo, Pontevedra, Spain.
Abstract:
In this study, we analysed the possible influence of the c.419-43delT BMPR2 variant in patients with Graves' disease (GD), in a molecular basis, focusing our efforts on possible alterations in the mRNA processing and synthesis. The molecular assessment of this variant in patients with GD would shed light on the association between the BMPR2 gene and the disease. The variant was detected in 18%, 55% and 10% of patients with pulmonary arterial hypertension, GD and in general population, respectively. Patients with GD fold change showed increased BMPR2 expression when matched against the controls, with a mean of 4.21 ± 1.73 (P = 0.001); BMPR2 was overexpressed in the analysed cell cycle stages. Fold change analysis of variant carriers and non-carriers showed slight overexpression and differences between phases, but none of them were statistically significant. BMPR2 expression was confirmed in the lymphoblastoid cell lines (LCLs) with a molecular weight of 115 kD, and no differences between variant carriers and non-carriers were detected. To conclude, the BMPR2 variant c.419-19delT appears in high frequency in patients with GD, and independently of its presence, BMPR2 is overexpressed in the LCLs from the GD patients tested. This increase could be paired with the described decreased expression of transforming growth factor-β1 in thyroid tissue from patients with GD.
Insights
The BMPR2 variant c.419-19delT is frequent in Graves' disease (GD) patients. BMPR2 is overexpressed in GD patients
Area of Science:
- Genetics
- Endocrinology
- Molecular Biology
Background:
- Graves' disease (GD) is an autoimmune disorder affecting the thyroid gland.
- The BMPR2 gene plays a role in various cellular processes and has been implicated in other diseases.
- Understanding genetic variants associated with GD can elucidate disease mechanisms.
Purpose of the Study:
- To investigate the association between the c.419-19delT BMPR2 variant and Graves' disease.
- To analyze the molecular basis, including mRNA processing and synthesis, related to this variant in GD patients.
- To determine BMPR2 expression levels in GD patients with and without the variant.
Main Methods:
- Genotyping to detect the c.419-19delT BMPR2 variant in GD patients and controls.
- Quantitative analysis of BMPR2 gene expression (fold change) in patient samples.
- Confirmation of BMPR2 expression in lymphoblastoid cell lines (LCLs).
Main Results:
- The c.419-19delT BMPR2 variant was found in 55% of GD patients, compared to 10% in the general population.
- BMPR2 expression was significantly increased (4.21-fold change, P=0.001) in GD patients compared to controls.
- No statistically significant differences in BMPR2 expression were observed between variant carriers and non-carriers within the GD group.
Conclusions:
- The BMPR2 variant c.419-19delT is prevalent in patients with Graves' disease.
- BMPR2 is overexpressed in Graves' disease patients, irrespective of the variant's presence.
- This overexpression may be linked to decreased transforming growth factor-β1 expression in GD thyroid tissue.
Related Concept Videos
01:28Graves' Disease I: Introduction
01:24Graves Disease II: Pathophysiology