Thanks to the cells of a patient with a rare neurodegenerative disease -the Gerstmann-Sträussler-Scheinker syndrome (GSS)- researchers from the Institute for Bioengineering of Catalonia (IBEC), at the Barcelona Science Park, and the Institute of Neurosciences of the UB have created neurons showing other neurodegenerative processes which so far had not been related to this minority disease. This scientific finding could open new doors to the study of neurodegenerative pathologies with diagnoses similar to Parkinson’s or Alzheimer’s according to the study published in the journal Molecular Neurobiology.

The new study –led by José Antonio del Río, professor from the Department of Cell Biology, Physiology and Immunology of the Faculty of Biology, and member of the Institute of Neurosciences of the UB and IBEC– results from the collaboration between experts from the Mollecular and Cellular Neurobiotechnology Group from IBEC, and the neuropathologist Isidre Ferrer, professor from the Faculty of Medicine and Health Sciences and the Institute of Neurosciences of the UB, and the neurologist Adolfo López, from the Donostia University Hospital in San Sebastian.

The research started with the discovery of a patient with tauopathy –a neurodegenerative disorder- and a genetic mutation causing another rare neurodegenerative disease, in particular, the Gerstmann-Sträussler-Scheinker syndrome (GSS), a prionopathy involving a gene mutation in the prion protein PRNP. Finding two neurodegenerative diseases with different origins in the same patient was an exceptional finding, which encouraged them to go on with the research. With the donation of a biological tissue from a family member of the patient, who had the same mutation, the experts could reprogram these somatic cells and turn them into neurons to study the relation between tauopathy and the observed mutation in the gene PRNP.

“The neurons generated in this study are the first line of induced cells out of fibroblasts from a patient with GSS” says José Antonio del Río, professor of the University of Barcelona and a main researcher of the IBEC.

According to the neurologist Andreu Matamoros, researcher from the group led by José Antonio del Río in IBEC and first author of the study, “this unexpected relation opens the door to a search for new therapeutic targets to prevent both diseases from complementing each other in order to cause the neurodegeneration and neuronal death”.

• Reference article: 

Matamoros-Angles, A., Gayosso, L.M., Richaud-Patin, Y. et al. Mol Neurobiol (2017). iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology. Molecular Neurobiology, doi:10.1007/s12035-017-0506-6