The single-cell RNA sequencing technique allows for the individual analysis of each blood cell, thereby identifying subtle molecular alterations related to the disease that conventional methods cannot detect. This research, published in the journal Scientific Reports, opens a new avenue for the search for blood biomarkers that can monitor the pathology in a minimally invasive way.
Huntington's disease is a severe hereditary disorder, caused by a genetic mutation, which leads to involuntary movements, mental deterioration, and ultimately death. Overcoming the challenges of blood analysis, such as natural variations between individuals, has been key. The individualized analysis of blood cells facilitates the detection of molecular alterations that indicate the disease's state.
The study used mouse models to verify that the molecular alterations detected in the blood reflect brain damage. A relevant connection was observed: mice with poorer motor coordination showed high activity of the Irf7 gene, related to the immune response and inflammation, which appears to be excessively activated in Huntington's disease.
Luis M. Valor, lead researcher of the study, highlights that “the most promising aspect is that we detected this same molecular change in both the blood and the brain region most affected by Huntington’s”. This suggests that, in the future, a blood test could provide information about the disease's progression without the need for more invasive tests.
The results, obtained in animal models, are still far from clinical application. The next step will be to validate these findings in human volunteers, in collaboration with various hospitals and research centers. If confirmed, they could contribute to the development of more accurate blood tests to measure what is happening in the brain.
