Two parallel and complementary studies, published in the journals Leukemia and Nature Communications , have successfully recreated models of GATA2 gene deficiency disease, a rare genetic disorder that affects fewer than one million people worldwide. Thanks to these new models, knowledge has been advanced about the molecular process by which the haematopoietic stem cells of these patients become cancerous. The studies were led by Professor Alessandra Giorgetti, from the Department of Pathology and Experimental Therapeutics at the Faculty of Medicine and Health Sciences of the University of Barcelona and the Bellvitge Biomedical Research Institute (IDIBELL).
The studies reveal that the initial mutation in the GATA2 gene, an essential factor in blood cell formation, promotes premature ageing of blood stem cells and increases the likelihood of errors during cell division. In addition, the research team describes the involvement of genetic events that contribute to the development of acute myeloid leukaemia in patients with this disorder.
"Currently, GATA2 deficiency can only be cured with a stem cell transplant. With the new models we have developed, we hope to provide the scientific community with a tool that will help develop therapeutic strategies to more effectively correct the original mutation," says Giorgetti, head of the Haematopoietic Stem Cell Biology and Leukaemogenesis research group at IDIBELL.
