Research ArticleParkinson’s Disease

A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson’s disease

See allHide authors and affiliations

Science Translational Medicine  09 Sep 2020:
Vol. 12, Issue 560, eaau3960
DOI: 10.1126/scitranslmed.aau3960

You are currently viewing the editor's summary.

View Full Text

Log in to view the full text

Log in through your institution

Log in through your institution

PARK(7) preservation

Mutations in PARK7 lead to the development of early-onset Parkinson’s disease (PD), a neurodegenerative condition for which there are currently no effective treatments. Here, Boussaad et al. 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. Rescuing the aberrant splicing with the kinetin analog RECTAS in combination with phenylbutyric acid rescued 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.

View Full Text

Stay Connected to Science Translational Medicine