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Recreating Marfan syndrome in a dish

last modified Nov 29, 2016 02:10 PM

Dr Sanjay Sinha's team has created a blood vessel model of Marfan syndrome from human skin samples. The samples were obtained from two patients, and were first re-programmed into induced pluripotent stem cells (iPSC). Next, the samples were differentiated into smooth muscle cell lines that faithfully mimicked tissues found in human blood vessels.

Marfan syndrome is caused by mutations in a gene known as fibrillin-1 and affects ~13,000 individuals in the UK. Patients with Marfan syndrome often go on to have a thoracic aortic aneurysm (TAA) where the main artery leading away from the heart balloons and can cause a life-threatening rupture. Currently the only treatment that prevents aortic rupture for Marfan patients suffering from a TAA is to have open-heart surgery to replace the damaged section of the aorta.

Dr Sinha's team have now used these blood vessel models to improve our understanding of how the inherited disease can lead to fatal aneurysms. Their results provide insights into why clinical trials of drugs to treat the disease have so far been largely unsuccessful. The team now hope to use the lab-generated blood vessel tissues to test drugs for patients with Marfan syndrome.

This study was partially funded by the BHF Oxbridge Centre of Regenerative Medicine.

More information about the research can be found on the BHF website and in the original paper that was published in Nature Genetics.

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