J Appl Biomed 8:169-177, 2010 | DOI: 10.2478/v10136-009-0020-x

Involvement of the TGF-β superfamily signalling pathway in hereditary haemorrhagic telangiectasia

Carmelo Bernabéu*, Francisco Javier Blanco, Carmen Langa, Eva María Garrido-Martin, Luisa María Botella
Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas (CSIC) and CIBER de Enfermedades Raras (CIBERER), 28040 Madrid, Spain

Hereditary haemorrhagic telangiectasia (HHT) is a vascular hereditary autosomic dominant disease associated with epistaxis, telangiectases, gastrointestinal haemorrhages and arteriovenous malformations in lung, liver and brain. It affects 1-2 in 10,000 people. There are at least three different genes mutated in HHT, ENG, ACVRL1 and MADH4 that encode endoglin, activin receptor-like kinase (ALK1) and Smad4 proteins, respectively. These proteins are involved in the transforming growth factor (TGF)-β superfamily signalling pathway of vascular endothelial cells. Mutations in ENG (HHT1) and ACVRL1 (HHT2) account for more than 90% of all HHT mutations. In this article, we review the underlying molecular and cellular bases and the therapeutic approaches that have been addressed in our laboratory in recent years.

Keywords: transforming growth factor; endothelial cells; hereditary haemorrhagic telangiectasia; endoglin; ALK1; Smad; anti-fibrinolytic agents; estrogens

Received: February 23, 2010; Revised: April 29, 2010; Published: July 31, 2010  Show citation

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Bernabéu C, Blanco FJ, Langa C, Garrido-Martin EM, Botella LM. Involvement of the TGF-β superfamily signalling pathway in hereditary haemorrhagic telangiectasia. J Appl Biomed. 2010;8(3):169-177. doi: 10.2478/v10136-009-0020-x.
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