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

18th national competition for scientific and technical research

Rare diseases

Senior Researcher : María Luisa Cayuela Fuentes

Research Centre or Institution : Hospital Clínico Universitario Virgen de la Arrixaca. Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca. El Palmar, Murcia.


Dyskeratosis  congenita(DC) is a rare disease caused by mutations in the Telomerase complex or in the Shelfterin complex, as a result patients suffer telomeric shortening. The main cause of premature death is due to failure in hematopoiesis in 85% of cases or cancer in 10%. The variability and severity of the symptoms of the different mutations causing the disease is not well explained only by telomeric shortening, so we suspect that these components could be involved in other processes. Recently our group has shown that the genetic inhibition of the RNA component of telomerase (TR or TERC) in the zebrafish model causes a defect in myelopoiesis that is independent of telomeric length and telomerase activity, which explains the persistent neutropenia in children with DC. Our results suggest that TR acts as a long non-coding RNA (lncRNA) with regulatory functions in hematopoiesis beyond its function in telomeres. The objectives of the project are i) to identify the non-canonical functions of TERC in hematopoiesis and cancer and ii) establish therapeutic strategies.

Regarding the first of the objectives, our group has identified numerous proteins that interact with TERC, among them RNA polymerase II. Characterization of the interactors will reveal new targets for DC. We have also developed recently patented compounds, based on the knowledge generated about TERC, for the myelopoiesis activation in a context of TERC haploinsufficiency and for  induced or atypical neutropenia.


Scientific Production
Magazine Articles -
Communications at national conferences 3
Communications at international conferences -


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