The examination identifies the potential increase in the mutation of the function in volleyball

The new research article was published in volume 16 January 20, 2025, entitled “Analysis of pathogenic variants in volleyball, reveals a potential increase in function mutation. “

Researchers at the Instituto de Física Universidad Auóroma de San Luis Potosí and Hospital Central “Ignacio Morones Prieto” found a new way in which the gene mutation can contribute to the retina, a type of eye cancer that affects young children. The study suggests that a specific genetic change, PR552*can not only stop the proper functioning of the gene, but can also give it a new function that leads to a growth of cancer. This questions the widespread belief that both copies of the retina gene (RB1) must be damaged to develop cancer.

Retinoblastoma is the most common eye cancer in children under five years old. This happens when the RB1, which usually helps to control the growth of cells, ceases to function properly. When this happens, cells can grow uncontrollable and create tumors in the eye. Early symptoms include the appearance of white glow in the student, incorrectly even eyes or vision problems, and quick detection and treatment can significantly improve children’s results.

In this study, scientists using human in vitro cell models have examined three specific changes in the RB1 gene. They discovered that one of them, PR552*, caused the cells to grow, survive and move more than usual. Unlike other mutations, he seemed to have an additional harmful effect, even if it was only received one copy of the gene.

Researchers also studied a family in Mexico, in which the PR552* mutation was handed over to all three of his children, each of whom developed with volleyball. This suggests that the mutation can be stronger than previously thought, probably causing cancer, even if the second copy of the gene is normal.

This discovery can change the way clinicians understand and treat volleyball. Until now, it was thought that both copies of the RB1 gene had to be damaged so that the disease appeared. But this study suggests that only one defective copy of the gene may be enough to start the disease. In the case of confirmation, these determinations may support the development of genetic screening tools to identify children threatened before and inform personalized treatment strategies.

Scientists plan to continue studying this mutation to better understand how it works and whether it also plays a role in other cancers, such as bone and brain tumors. Their work can lead to new approaches to the fight against volleyball and perhaps other cancers related to the RB1 gene.