In a recent publication, an international consortium led by the „Luxembourg Centre for Systems Biomedicine“ shows how the serious consequences of a rare mutation in Parkinson's disease can be precisely counterbalanced – although so far only in the laboratory. Professor Thomas Gasser from the Hertie Institute for Clinical Brain Research contributed to the research.
The rare mutation causes early-onset Parkinson’s. The researchers were able to show that the mutation leads to a truncated version of an important RNA. Patients carrying this mutation do not produce a smaller version of the corresponding protein which might still be functional, but completely fail to synthesize the protein, which is critically involved in energy metabolism. As a result, the nerve cells die. The researches detected substances which were able to correct the RNA-defect and thus compensate for the protein loss. The results are an important step towards a personalized therapy for patients with Parkinson’s disease carrying this particular mutation.
Link to the Press Release of the Luxembourg Centre for Systems Biomedicine of the University of Luxembourg: https://wwwen.uni.lu/university/news/slideshow/new_approach_against_parkinson_s_disease_through_stem_cell_research
Original Publication:
Boussaad I; Obermaier CD et al. A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson’s disease. Science Translational Medicine, 9. September 2020.
DOI: 10.1126/scitranslmed.aau3960
Contact:
Professor Thomas Gasser
Center of Neurology
Hertie Institute for Clinical Brain Research (HIH)
Department Neurodegenerative Diseases
Hoppe-Seyler-Straße 3
72076 Tübingen
Tel.: +49 (0)7071 29-86529
Communications
Dr. Mareike Kardinal (on parental leave)
Director of Communications
Hertie Institute for Clinical Brain Research
Otfried-Müller-Str. 27
72076 Tübingen
Stand-in:
Dr. Hildegard Kaulen
Karlsruher Str. 8
65205 Wiesbaden
Tel: 06122 52718
h.k[at]kaulen-wissenschaft.de