ProjectMiRisk-PD – Mitochondrial Risk factors in Parkinson disease

Basic data

Mitochondrial Risk factors in Parkinson disease
01/05/2018 to 30/06/2020
Abstract / short description:
The aim of this project is to gain essential knowledge with respect to the contribution of genetic variability of
nuclear-encoded mitochondrial proteins to the pathogenesis of PD via (i) elucidation of rare genetic risk variants, (ii)
identification of mitochondrial phenotypes that contribute to PD pathogenesis and (iii) analysis of their potential
suitability as novel therapeutic targets. To disentangle the complex genetic architecture of PD, we will investigate
mitochondrial network perturbations in idiopathic PD. Here we will use advanced computational modelling
approaches to build a mitochondrial molecular network from public, tissue-specific protein-protein interaction and
gene regulatory data. This network will then be used to integrate a unique set of genetic and transcriptomic data,
which is accessible through applicants’ memberships in different worldwide genetic consortia, via dedicated
statistical network analyses. Newly identified risk variants will be validated in PD patient cohorts by high throughput
genotyping technologies and, after burden analyses and prioritisation, patient-based cellular models will be
generated from the relevant samples for the functional characterisation of mitochondrial phenotypes in neurons
related to PD pathogenesis. The outcome of this project will be the identification of PD-related mitochondrial risk
variants that act in common pathways and their validation as new targets for future therapeutic approaches, leading
to tailored stratified therapies. The resulting PD models from this project will be directly fed into a translational
pipeline at the LCSB, including a unique automation platform funded by the FNR for compound screening of FDA approved
drugs to correct the PD-related phenotypes within the concept of repurposing of drugs for individualised

Involved staff


Institute for Clinical Epidemiology and Applied Biometry
Hospitals and clinical institutes, Faculty of Medicine

Local organizational units

Institute for Clinical Epidemiology and Applied Biometry
Hospitals and clinical institutes
Faculty of Medicine

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