Telomeres are repetitive structures of nucleotides and regulatory proteins located at the ends of linear chromosomes whose function is the maintenance of genomic integrity. Critically short telomeres induce disruption of cell proliferation, senescence or apoptosis. In cells with high proliferative demand, the telomeric length is maintained by the enzymatic complex of the telomerase, which catalyzes the addition of hexanucleotide DNA sequences at the 3 'telomeric end, using a constitutive RNA template. In telomeropathies, mutations that affect telomeric biology lead to poor cell regeneration, most often affecting the bone marrow, but also skin, lungs and liver, in addition to a greater predisposition to the development of some types of cancer.In the bone marrow, the abnormal wear of the telomeres causes the exhaustion of hematopoietic stem cells (HSCs), however, it is not well understood how the different populations of HSCs, multipotent parents and other blood cell precursors are particularly affected in telomeropathies. Our study, therefore, seeks to clarify the hematopoietic subpopulations most affected in these diseases, determining immunophenotypic panels by flow cytometry of CD34 + cells that populate the bone marrow of these patients. The results of the proposed work will deepen the knowledge about these rare diseases and unveil the bases for the future development of new more targeted and effective therapeutic options, such as autologous transplants and gene therapy.
News published in Agência FAPESP Newsletter about the scholarship: