Patient-derived cells and brain organoids uncover treatment targets in Parkinson’s disease
2020
University of Luxembourg, Luxembourg, Luxembourg
Mutations in PARK7 lead to the development of early-onset Parkinson’s disease (PD). The authors of this study identified an exonic splicing mutation in PARK7 linked to PD and studied the effect of this mutation in patient-derived cellular models. The mutation resulted in impaired splicing, reduced production of DJ-1 protein, and consequent mitochondrial dysfunction. Using precise bioinformatics algorithms, the researchers performed an automated drug screen and identified a combination of two substances that rescued the aberrant splicing and neuronal loss in patient-derived brain organoids. The results suggest that precision medicine targeting specific molecular signatures could be an effective strategy for PD and possibly other neurodegenerative diseases.
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson’s disease
Rejko Krüger
Added on: 09-25-2020
[1] https://stm.sciencemag.org/content/12/560/eaau3960[2] https://www.bionity.com/en/news/1167999/stem-cell-research-delivers-new-points-of-attack-against-parkinsons-disease.html
