Phospho-proteome analysis of PBMCs in LRRK2 mutation carriers: expansion and validation of findings of the Barcelona LRRK2 Biorepository

Datos básicos

Código:

MJFF21/12

Dotación:

26.648,71 €

Año Inicial:

2021

Año final:

2025

Objetivos del proyecto

The project aims at validating and expanding the findings from our Phospho-(P)-proteomic pilot study using PBMCs from two novel G2019S L2PD and L2NMC cohorts. Expected outcome measures include: (i) identification of differentially phosphorylated proteins downstream of LRRK2 which can be related to the mutant LRRK2 pathophysiology in G2019S L2PD patients; (ii) evaluation of potential early LRRK2 pathway deregulation in PD at-risk G2019S L2NMC before the onset of motor symptoms; and (iii) overall assessment of the clinical applicability of specific P-proteomic readouts as diagnostic/ progression/ or pheno-conversion biomarkers. In parallel, findings in carriers of G2019S at the LRRK2 kinase will be compared to the common iPD form, and also to L2PD and L2NMC harboring the R1441G mutation at the LRRK2 GTPase domain, which is also thought to enhance the LRRK2 kinase activity.

Unidades de investigación

• ENFERMEDADES NEURODEGENERATIVAS

  

  Investigador Responsable

  Jon Infante Ceberio

  jon.infante@scsalud.es