RT Journal Article
T1 Altered Secretome and ROS Production in Olfactory Mucosa Stem Cells Derived from Friedreich's Ataxia Patients
A1 Pérez Luz, Sara
A1 Loria, Frida
A1 Katsu-Jiménez, Yurika
A1 Oberdoerfer, Daniel
A1 Yang, Oscar-Li
A1 Lim, Filip
A1 Muñoz-Blanco, José Luis
A1 Díaz-Nido, Javier
AB Friedreich’s ataxia is the most common hereditary ataxia for which there is no cure or approved treatment at present. However, therapeutic developments based on the understanding of pathological mechanisms underlying the disease have advanced considerably, with the implementation of cellular models that mimic the disease playing a crucial role. Human olfactory ecto-mesenchymal stem cells represent a novel model that could prove useful due to their accessibility and neurogenic capacity. Here, we isolated and cultured these stem cells from Friedreich´s ataxia patients and healthy donors, characterizing their phenotype and describing disease-specific features such as reduced cell viability, impaired aconitase activity, increased ROS production and the release of cytokines involved in neuroinflammation. Importantly, we observed a positive effect on patient-derived cells, when frataxin levels were restored, confirming the utility of this in vitro model to study the disease. This model will improve our understanding of Friedreich´s ataxia pathogenesis and will help in developing rationally designed therapeutic strategies.
PB MDPI
YR 2020
FD 2020-09-11
LK https://hdl.handle.net/20.500.14352/102039
UL https://hdl.handle.net/20.500.14352/102039
LA eng
NO Author Contributions: D.O. performed the experiments and analyzed the data. S.P.-L. and F.L. (Frida Loria) performed experiments, analyzed the data, drafted the work and wrote the manuscript. Y.K.-J. analyzed aconitase experiments and provided scientific input. O.-L.Y. acquired and analyzed the cytokine array experiments. F.L. (Filip Lim) helped optimize OE-MSC cultures and reviewed the manuscript. J.L.M.-B. recruited patients and healthy subjects. J.D.-N. conceived and coordinated the project, discussed the experiments and results, and provided financial support. All authors have read and agreed to the published version of the manuscript.
NO Plan Nacional de Investigación
NO Association Française de l’Ataxie de Friedreich
NO Fundación Ataxia en Movimiento
DS Docta Complutense
RD 7 abr 2025