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AD/PD 2021 | Opportunities for precision medicine in Parkinson’s disease: DJ-1 mutations

Rejko Krüger, MD, University of Luxembourg, Belvaux, Luxembourg, discusses a study investigating a rare mutation in Parkinson’s disease, the DJ-1 gene mutation, which causes loss of DJ-1 protein. Due to the loss of function of DJ-1, homozygous individuals carrying the mutation develop PD at a very early age. The study identified a splicing defect; an exon was skipped, causing a drastic reduction of DJ-1 protein. Using a genetic and pharmacological approach, the investigators were able to restore DJ-1 protein and mitochondrial dysfunction. These results open opportunities for precision medicine strategies in Parkinson’s disease. This interview took place during the AD/PD™ 2021 conference.


RK has received research grants from Fonds National de Recherche de Luxembourg (FNR) as Coordinator of the National Centre for Excellence in Research on Parkinson’s disease (NCER-PD), Coordinator of the Study on COvid-19 National survey for assessing VIral spread by Non-affected CarriErs (CON-VINCE) and from the German Research Council (DFG; KR2119/8-1), the Michael J Fox Foundation, the European Union’s Horizon2020 research and innovation program (WIDESPREAD; CENTRE-PD; grant agreement no. 692320). RK received as well as speaker’s honoraria and/or travel grants from Abbvie, Zambon and Medtronic and he participated as PI or site-PI for industry sponsored clinical trials without receiving honoraria.