What is it about?
We started discovering a genetic variant of the BMPR2 gene in a 55% of the Graves Disease patientes. After stablishing patients' immortalized cell lines, we found that the BMPR2 was overexpresed in the patients' group, a result that makes sense taking into account the alterations of the balance between BMP and TGF-B signalling in thyroid pathology.
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Why is it important?
Our findings highlight a relationship between Graves Disease and the BMPR2 that had been suspected for a while but had not been confirmated until now. It could help into finding different approaches in Graves Disease treatment's research.
Perspectives
Our group studies rare diseases (Alström Syndrome, Bardet-Biedl Syndrome and Pulmonary Arterial Hypertension), the BMPR2 variant that ended up laeding to this paper was found completely by chance! I was offered the possibility of working on this topic when I was finishing my B.Sc, and this ended up being part of my M.Sc thesis. I have to say that it has been a pleasure to be able to research into such an interesting topic as autoimmunity from a completely different perspective. I hope you enjoy its lecture as much as we did during the draft!
Mr Mauro Lago Docampo
University of Vigo
Read the Original
This page is a summary of: Functional assessment of the BMPR2
gene in lymphoblastoid cell lines from Graves’ disease patients, Journal of Cellular and Molecular Medicine, December 2017, Wiley,
DOI: 10.1111/jcmm.13425.
You can read the full text:
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