The research group “Parkinson's disease and other neurodegenerative disorders of movement: clinical and experimental research” where Dr. Rubén Fernández-Santiago is Junior Group Leader R3B, initiated the “Beatriu de Pinós” grant from the Agency for the Management of University and Research Grants (AGAUR) on 17/01/2022 where the beneficiary is Dr. Lorena De Mena Álvarez.
The objective of this grant is to characterize the epigenetic regulation of the aSynuclein gene in dopaminergic neurons and peripheral blood of patients with Parkinson's disease. The protein product of this gene is the main component of Lewy bodies, which together with neuronal loss, represent the two main neuropathological hallmarks of the disease.
This action has resulted in several publications. In a first publication, we described hypo-methylation in the LRRK2 gene in Parkinson's patients, as the most frequent genetic form of Parkinson's (de Mena et al. Mov Disord 2024, PMID: 3971195) In a second publication we identified pSer106 RAB12 as a biomarker in the blood of Parkinson's patients (Cortés & Phung et al. Brain 2025, PMID: 39705401) In the third publication, we identified epigenetic alterations at the genome-wide level in Parkinson's dopaminergic neurons, as target cells of the disease (de Mena et al. 2025, In preparation).
The support of the Beatriu de Pinós program has been essential to carry out this research.
Grant Data:
- Convocatòria: Beatriu de Pinós 2020
- Títol: Uncovering the role of epigenètic regulation of the a-synuclein gene in Parkinson Disease
- IP: Rubén Fernández-Santiago
- BF: Lorena De Mena Álvarez
- Finançador: GENERALITAT DE CATALUNYA - PROJECTES
- Entitat beneficiària: Fundació de Recerca Clínic Barcelona-Institut d’Investigacions Biomèdiques August Pi i Sunyer.
- Referència: 2020-BP-00176
- Import: 144.300,00 €
- Durada: del 17/01/2022 al 16/01/2025
