Jump to resource

Projects. Life and Matter Sciences

Dyskeratosis congenita. New models, New molecular keys and New treatments.Dyskeratosis congenita. New models, New molecular keys and New treatments.

Lead Researcher: María Luisa Cayuela Fuentes
Research Centre: Hospital Clínico Universitario Virgen de la Arrixaca. Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca. El Palmar, Murcia.


Dyskeratosis congenita (DC) is an inherited disorder with mutations affecting telomerase or telomeric proteins. DC patients usually die of bone marrow failure, in 85% of the cases, or due to cancer in 10% of cases. The variability of the symptoms and severity of the different disease-causing mutations cannot be explained by telomere length alone., so we suspect that these components could be involved in other processes yet unknown Intriguingly, we have recently found that genetic depletion of TR in the zebrafish results in impaired myelopoiesis, which is independent of telomere length and telomerase activity. These results may explain the persistant neutropenia and altered myelopoiesis observed in DC children. Our groundbreaking discoveries suggest that TR can function as a noncoding RNA with potential regulatory functions. The overall purpose of this proposal is, therefore, to identify the non-canonical roles of TR in haematopoiesis, cancer, and establish therapeutic strategies for DC and related diseases.

*All intellectual property rights belong to the author. Reproduction of all or part of the work without permission from the author is prohibited.
© RAMÓN ARECES FOUNDATION. All rights reserved.


Síguenos en

  • Twitter
  • Facebook
  • Flickr
  • Youtube
  • Slideshare

© 2007 Fundación Ramón Areces All rights reserved.

c/ Vitruvio, 5. 28006 Madrid (España) | Telephone: 91 515 89 82 | C.I.F.: G-28459311