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Chronic activation of the TGF‑beta route in Marfan's syndrome: deregulation of intracellular traffic and the extracellular matrix

16th national competition for scientific and technical research

Rare diseases

Senior Researcher : Gustavo Egea Guri

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Research Centre or Institution : Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona.


The aim is to use cellular models of Marfan's syndrome to investigate the contribution of different routes for the internalisation of the TGF β complex and its receptor, together with the potential differential expression of integrins as these complex essential proteins mediate in the communication between cells and the extracellular matrix synthesising and surrounding them; this is primarily damaged by mutation in fibrilin-1, which forms part of the elastic fibres. Alterations in both processes would contribute significantly to the characteristic chronic TGF β signalling typically occurring in this disease. It has been found that the molecular mechanism associated with the internalisation route through lipid rafts/caveoline presents a reduction in the levels of expression of some of its essential components. This means that the signalling which leads under normal conditions to the extinction of the signalling by TGF β is altered in the vascular smooth muscle cells of Marfan patients, so that signalling by TGF β will not have the necessary and expected effect. As a result, this cytokine eventually causes permanent activation in these cells. On the other hand, Marfan cells were found to have altered capacities for adhesion and migration, directly associated with alterations in the organisation of the actin cytoskeleton and activation of members of the Rho GTPase family.

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