The work entitled ‘Telomerase RNA recruits RNA polymeraseII to target gene promoters to enhance myelopoiesis’, which was published in 2021 in the prestigious international journal ‘Proceedings of the National Academy of Sciences of the United States of America’ (PNAS) has been the best research paper in Biomedicine 2022.
Dr. Jesús García Castillo, IMIB-Pascual Parrilla researcher, who has carried out this work, has been awarded the ‘Illustrious Official College of Biologists of the Region of Murcia’ award granted by the Royal Academy of Medicine and Surgery of the Region of Murcia. On January 26, the award was presented at the opening ceremony of the academic year of the Royal Academy of Medicine at the Archaeological Museum of Murcia.
The work reveals new molecular mechanisms whose alteration or malfunction cause the appearance of dyskeratosis congenita. This is a rare inherited disease that causes bone marrow failure and, in some patients, eventually leads to blood tumors or leukaemias.
Dyskeratosis patients present mutations in the components of the telomerase complex, the enzyme responsible for maintaining the length of telomeres or the end of chromosomes. Researchers have found that one of these components, TERC, is capable of controlling the molecular and cellular mechanisms that regulate the appearance of new myeloid blood cells, which help the body’s immune system fight infection.
The mutations that appear in this molecule cause these control mechanisms to malfunction, there is no proper regulation of this process and patients become ill.
The work was carried out in the ‘Telomerase cancer and aging’ laboratory, directed by Dr. María Luisa Cayuela at the IMIB. The work has collaborations from teams from Harvard University in Boston and the Josep Carreras Leukemia Research Institute in Barcelona.
These findings are the basis for Dr. Cayuela’s group to continue working on the design of new therapies that can be used in the treatment of dyskeratosis congenita.
Thus, researchers are developing a series of compounds that could activate this process of generating new myeloid cells in the bone marrow of patients, in order to combat the disease. These compounds are in a preclinical research phase, waiting for clinical trials to begin in the immediate future with the ultimate goal of applying them to clinical practice and improving treatments for these patients.
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