Researchers from the Alicante Institute of Health and Biomedical Research (ISABIAL) and the Miguel Hernández University of Elche (UMH) have applied a novel molecular analysis technique, single-cell RNA sequencing, to study Huntington's disease. This methodology, published in the journal Scientific Reports, allows for the individualized examination of blood cells to detect traces of the pathology.
Huntington's disease is a severe hereditary disorder causing involuntary movements, mental deterioration, and ultimately death. It is caused by a genetic mutation affecting the 'huntingtin' protein, which becomes toxic to neurons. Professor Luis M. Valor, the study's leader, emphasizes the need for tools to assess patients' conditions and predict disease progression.
Although blood analysis is minimally invasive, detecting reliable biomarkers for Huntington's presents challenges due to individual variations that mask subtle alterations. The new strategy of individualized blood cell analysis facilitates the detection of these molecular changes.
The study also employed mouse models to verify that blood molecular alterations reflect brain damage. High activity of the Irf7 gene, related to immune response and inflammation, was observed in mice with poorer motor coordination, suggesting a connection to the constant brain inflammation associated with Huntington's.
«The most promising aspect is that we have detected this molecular change in both the blood and the most affected brain region,» explains Valor. This opens the door to future blood analyses that provide information on disease progression without the need for more invasive tests. The results complement previous studies aimed at obtaining blood biomarkers.
The researchers stress that these findings were obtained in animal models and are still far from clinical use. The next step will be to validate these discoveries in human volunteers, in collaboration with hospitals and research centers, to improve diagnostic accuracy.
The study also involved Paula Martín (University of Navarra and CIBEROBN), Samanta Ortuño (ISABIAL), Juan Gallego (IDiBE UMH), and Silvia Martí (ISABIAL). The research was financially supported by the Carlos III Health Institute, the European Regional Development Fund, the Ministry of Science and Innovation – NextGenerationEU, and ISABIAL.
