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Non-atherosclerotic thrombosis and multiorgan damage in Hutchinson-Gilford progeria syndrome: From mechanism to therapy

21st national competition for scientific and technical research

Rare diseases

Senior Researcher : Vicente Andrés García

Research Centre or Institution : Centro Nacional de Investigaciones Cardiovasculares (CNIC). Madrid


Hutchinson-Gilford progeria syndrome (HGPS) is an ultrarare genetic disease caused by progerin, a mutant form of the nuclear protein lamin A that provokes premature aging and death. From the first or second year of life, progerin-induced cell damage causes growth retardation and disease signs in multiple organs (alopecia, scleroderma, lipodystrophy, skeletal dysplasia, joint contractures, cardiovascular alterations). Although patients typically lack most traditional cardiovascular risk factors, they develop atherosclerosis and die in their teens mainly from myocardial infarction, heart failure, or stroke. Based on solid preliminary data, our groundbreaking hypothesis is that HGPS promotes thrombus formation unrelated to atherosclerotic plaque rupture/erosion, that compromises tissue microcirculation and perfusion and results in multiorgan injury including heart damage.

Anti-coagulant therapy starting early in life may thus prevent tissue degeneration and heart dysfunction, improving life quality and extending lifespan of HGPS patients. We will perform in vivo studies with HGPS mice to define molecular and cellular mechanisms as well as hematopoietic-intrinsic and -extrinsic factors that provoke thromboinflammatory processes in HGPS. To expedite translation from basic to clinical research, we will test the efficacy of anticoagulant drugs in HGPS mice, both alone and in combination with lonafarnib, the only drug approved by the US Federal Drug Administration and the European Medicines Agency for treating HGPS. Complementing these research actions, 3 HGPS patient associations will organize activities to promote patient engagement and the dissemination of results to a non-expert audience. In addition to their relevance to HGPS, the results of this project promise insight into normal aging and other pro-thrombotic diseases.

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