i3S scientists unravel genetic code associated with human diseases
A team of researchers from i3S, coordinated by Alexandra Moreira, from the Gene Regulation group, and José Bessa, from the Vertebrate Development and Regeneration group, has identified a small sequence hidden in the genetic code that plays a key role in regulating gene activity and has a major impact on neurological diseases and cancer. The study, which resulted from a collaboration between the two scientists' laboratories, was published in the prestigious scientific journal Nucleic Acids Research.
The discovery focuses on a short sequence of mRNA that doesn't lead to protein production, but is essential for controlling the amount of protein that cells make. Despite being extremely small, and therefore susceptible to disappearance, this sequence has remained in the genetic code for hundreds of millions of years, being present in species as diverse as flies, fish, mice, and humans.
In experiments conducted on zebrafish embryos, an animal model widely used in biomedical research, changes were observed in this genetic element that cause problems in embryonic development, highlighting its biological importance.
The study also revealed a direct link to human diseases. The team concluded that this sequence is present in several genes that have been associated with diseases of the nervous system, such as Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis (ALS) and even stroke.
Researchers have also discovered that there is a genetic variant associated with colorectal cancer that contains this sequence, increasing the activity of an oncogene. This result suggests that this small mRNA sequence could be used as a new target for future therapies.
According to the authors, the newly published discovery demonstrates how small changes in genetic material that does not code for proteins can have a huge impact on health.The work contributes to a better understanding of the mechanisms underlying congenital diseases and cancer, opening up new perspectives for future therapeutic approaches.
This research also reinforces the importance of fundamental science in identifying essential biological mechanisms and advancing knowledge about human health.
