Scientists in the Balearic Islands discover hidden DNA mutations linked to the most aggressive brain cancers.

PalmA study by the Balearic Islands Health Research Institute (IDISBA) revealed hidden mutations in little-explored areas of human DNA, known as 'dark DNA,' that could drive the progression of aggressive brain tumors. A discovery that opens the door to better diagnosis of the disease. The international team led by Dr. Diego Marzese has discovered genetic changes in little-explored areas of human DNA that could help explain why glioblastoma, the most aggressive brain tumor, is so difficult to treat, the Regional Ministry of Health explained in a statement.

This discovery opens the door to the search for new biomarkers that will allow for better diagnosis of the disease and, in the future, design more personalized treatment strategies. The work, developed mainly by predoctoral researcher Sandra Iñiguez Muñoz, first author of the study, has been published in the international journal Nothing & DiseasesAlthough most cancer research has focused on genes, they only represent 2% of our DNA. The remaining 98%, called non-coding DNA or dark DNA, has traditionally been ignored. However, this study shows that mutations capable of altering cell function can also occur there. Dr. Marzese explains that "until now, these mutations had gone unnoticed because they do not directly affect genes," but Idisba's discovery "shows that these regions of DNA can play a key role in the progression of complex diseases such as cancer."

Glioblastoma is a devastating disease: the average patient survival rate does not exceed 15 months, even with current treatments. Idisba researchers have seen that the mutations found in dark DNA could be activating hidden mechanisms that drive tumor growth and its resistance to therapies. To reach these conclusions, the Idisba team analyzed samples from patients treated at Uppsala University (Sweden), comparing tumors of different grades with healthy tissue. They confirmed that the mutations were repeated in different patients and were absent in non-cancerous areas, reinforcing their biological relevance. "We are beginning to decipher the hidden mechanisms that make glioblastoma so aggressive; knowing how it is activated from deep within the DNA brings us closer to understanding its nature and finding new ways to combat it," explains Sandra Iñiguez Muñoz. This work complements previous research by the same group at Idisba and is part of an emerging area of precision oncology, the study of non-coding DNA. Mounting evidence shows that so-called "junk DNA" plays essential roles in gene regulation and may become a key source of new advances against cancer.