A new research document was published in volume 16 of Genes and cancer On January 20, 2025, entitled “Analysis of the pathogenic variants in retinopathy reveals a possible profit of the operation mutation”.
Researchers from the Instituto de Física Universidad Autónoma de San Luis Potosí and Central Hospital “Ignacio Morones Prieto” have found a new way that a gene mutation can contribute to the retinopathy, a type of eye cancer that affects young children. The study suggests that a particular genetic change, PR552*, can not only stop the gene to function properly, but it could also give it a new function that leads to cancer development. This challenges the common belief that both copies of the retina gene (RB1) must be destroyed for the development of cancer.
Retinoblastoma is the most common eye cancer in children under five years of age. This happens when the RB1, which usually helps to control cell growth, stops working properly. When this happens, cells can grow uncontrollably and form tumors in the eye. Early signs include the appearance of white flash on the student, abused eyes or vision problems and immediate detection and treatment can significantly improve the results for children.
In this study, scientists, using in vitro human cell models, examined three specific changes in the RB1 gene. They found that one of them, PR552*, the cells that have grown, survive and move more than usual. Unlike other mutations, this appeared to have an additional harmful effect, even when only one copy of the gene was affected.
The researchers also studied a family in Mexico, where the PR552* passed through the father to his three children, each developed by the retina. This suggests that the mutation can be stronger than it was previously considered, potentially causing cancer, even if the second copy of the gene is normal.
This discovery could change the way in which clinical doctors understand and cure retinopathy. Until now, it is believed that both copies of the RB1 gene had to be damaged to show the disease. But this study suggests that only a defective copy of the gene can be enough to start the disease. If confirmed, these findings could support the development of genetic sorting tools to identify children who are at risk earlier and inform personalized treatment strategies.
“This mutated PR552* has been identified with high recurrence in various studies in patients with Vietnamese, Portuguese, Canadian, American, English and Mexican (this project), so we have decided to continue to study this particular mutator.”
Researchers are planning to continue studying this mutation to better understand how it works and also playing a role in other cancers, such as bone and brain tumors. Their work could lead to new approaches to combat retinal and possibly other cancers associated with the RB1 gene.
Source:
Magazine report:
Peña-Balderas, Am, et al. (2025). The analysis of pathogenic variants in retinoblastoma reveals a potential profit for the operation mutation. Genes and cancer. doi.org/10.18632/genesandcancer.239.
