Researchers from the IBIMA BIONAND platform and the Regional Hospital of Malaga are studying mutations in genes that may affect the prognosis of transplant patients.

A team of researchers from the Malaga Institute of Biomedical Research and Nanomedicine Platform (IBIMA BIONAND Platform) and the Immunology Laboratory of the Regional University Hospital of Malaga, in a study published in the journal “HLA: Genetics of the Immune Response”, developed a very advanced technology called Next Generation Sequencing (Next). Generation Sequencing in English) is useful for identifying these genetic mutations, which are becoming increasingly popular and used in clinical practice to improve clinical diagnosis or personalized treatment, among other things.

One of the areas of greatest applicability of this type of genomic research is in transplantation. With this technique, it is possible to closely visualize the genes that control compatibility between donor and transplant recipient, as well as see finer details in human leukocyte antigens (HLA), a type of antigen made up of molecules that are found on the surface of almost all human tissue cells and in leukocytes.

The research team’s description of three new HLA alleles using next-generation sequencing allows, in addition to improving the analysis, the identification of alleles by reading DNA sequences.

Scientists are constantly studying this type of gene to find differences or mutations that are key in predicting whether a transplant will be successful or not.

The research group that carried out this study is led by Alberto Torio, researcher in the Hematology and Hematotherapy group, together with immunologists Antonio Rodriguez and Laura Cabo, with the participation of Isabel Maria Mendez, Lourdes Antequera and Rafael Recio, staff technician. The Immunology Laboratories, led by Abelardo Caballero, head of the Department of Immunology, analyzed DNA samples from transplant patients in this study to characterize mutations that affect donor-recipient compatibility.

On the other hand, this type of research is the result of continuous collaboration of the scientific community at a global level, as it is made possible through the study of records and constant interaction for the registration and nomenclature of new alleles. with other databases in important institutions such as GenBank and IPD-IMGT/HLA. Alberto Torio himself stated that “the study of the human genome requires efforts to share, consult, check and compare with databases of enormous size in order to better understand how these types of mutations work and, in this sense, how they can affect the expectation of possible side effects in patients undergoing transplantation.”

On the other hand, the team recognized that work in this area allows us to delve deeper into aspects that improve the quality of life of people after receiving a transplant, being able to reduce the number of adverse events after receiving a new organ, such as possible rejections, as well as their severity, which directly affect graft survival.

This area of ​​research is of vital importance if we take into account that in Spain, according to the National Organization of Transplantation (ONT), the total number of transplantations has reached 5861, which represents a historical record in the country, making it, in addition, top the world ratings for the 32nd year in a row. The transplant rate is 122.1 per million inhabitants.

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