The discovery path for the development of new treatments for the disease, mainly for recurrent patients or for those in which conventional treatment does not work.
The study, published in the journal Nature Communications, was carried out by researchers from the Centro Infantil Boldrini (Brazil) and the Instituto João Lobo Antunes de Medicina Molecular, in Portugal, thanks to a joint grant from the Foundation for Research Support of the State of São Paulo ( FAPESP) and the Portuguese Foundation for Science and Technology (FCT).
“Based on the animal model developed in Brazil, we observed that the continuous activation of the IL-7R protein function, even at physiological levels of its expression, triggers the exaggerated proliferation of leukocytes (white blood cells) of the lymphocyte family, resulting in leukemia severe acute”, explained José Andrés Yunes, a researcher at the Centro Infantil Boldrini and one of the authors of the study.
“The finding is important because, with a greater understanding at the molecular level of the disease and its genetic causes, it is possible to propose new treatments, especially for cases of recurrence or in which conventional treatment does not work”, added the researcher, cited numerically statement from FAPESP.
Research has revealed that a mutation in the IL-7R-producing gene, in addition to triggering leukemia, also stimulates new mutations in other genes, such as PAX5 and KRAS, that make the disease progress.
Unlike other studies of genes related to the emergence and growth of tumors, the researchers developed a transgenic mouse model that mimicked a mutation in the IL-7R gene without altering its transcriptional control.
“With this we were able to maintain the IL-7R mutant protein, which will continue to be the same at the same lymphocyte maturation stages and with the same intensity. In this way, the effect of the mutation can be assessed at normal physiological levels”, based on the expert.
Acute lymphoid leukemia is an overgrowth of B cells, as progenitors of lymphocytes.
The researchers responsible for the discovery clarified that the IL-7R mutation is not enough to give rise to leukemia. There are other genes that are also involved in the disease.
Currently, conventional therapies, such as chemotherapy, are effective in up to 90% of cases, however, because they are affected, the average cure rate in Brazil is between 40% and 50% in children and between 30% and 40% in adults .
The statement from FAPESP also highlighted that in Portugal some drugs that inhibit the molecular effects of IL-7R were tested.
“Studies were carried out with panels of affected drugs that, in the future, will be tested in animals and then in humans until their effectiveness is proven. In any case, these are important findings, as it also allows for the proportion of the most suitable treatment for each patient based on the identification of these changes”, concluded.