The research, published in the journal Movement Disorders, reinforces the interest in these blood components as an accessible source for investigating potential disease progression biomarkers. The study was co-led by Katrin Beyer, head of the GTS group, and Pau Pastor, a neurologist at the Germans Trias i Pujol University Hospital and researcher in the same group.
The work describes a patient with early-onset Parkinson's disease and rapid progression to dementia, carrying a triplication of a genomic region that includes the SNCA gene. Patient follow-up allowed for the comparison of gene expression in the early stages of the disease and after the development of dementia, observing more changes in platelets than in whole blood.
Among the genes whose expression changed were those related to mitochondrial function, protein synthesis, and inflammation regulation. "This exceptional case has allowed us to study how molecular signals evolve as Parkinson's disease progresses. Platelets reflect more pronounced changes than whole blood," explains Susanna Jiménez, lead author of the article.
To explore whether some of these alterations were also present in other forms of the disease, the team analyzed a selection of genes in an independent cohort of 15 patients with early-onset sporadic Parkinson's. Differences in expression were observed in the platelets of these patients that coincided with some of the alterations found in the genetic case, suggesting possible shared molecular mechanisms.
The results provide a basis for continued research into platelets as a source of blood biomarkers, although further investigation will be needed to evaluate their utility as progression biomarkers.
