hiPSC Disease Modeling of Rare Hereditary Cerebellar Ataxias: Opportunities and Future Challenges

0478710 - ÚEM 2018 RIV US eng J - Článek v odborném periodiku
Lukovic, D. - Moreno-Manzano, V. - Rodriquez - Jimenez, F.J. - Vilches, A. - Syková, Eva - Jendelová, Pavla - Stojkovic, M. - Erceg, Slaven
hiPSC Disease Modeling of Rare Hereditary Cerebellar Ataxias: Opportunities and Future Challenges.
Neuroscientist. Roč. 23, č. 5 (2017), s. 554-566. ISSN 1073-8584. E-ISSN 1089-4098
Grant CEP: GA ČR(CZ) GBP304/12/G069; GA MŠMT(CZ) LO1309; GA MŠMT(CZ) ED1.1.00/02.0109
Institucionální podpora: RVO:68378041
Klíčová slova: 3D organoids * ataxia * disease modelling
Obor OECD: Developmental biology
Impakt faktor: 7.461, rok: 2017

Cerebellar ataxias are clinically and genetically heterogeneous diseases affecting primary cerebellar cells. The lack of availability of affected tissue from cerebellar ataxias patients is the main obstacle in investigating the pathogenicity of these diseases. The landmark discovery of human-induced pluripotent stem cells (hiPSC) has permitted the derivation of patient-specific cells with an unlimited self-renewing capacity. Additionally, their potential to differentiate into virtually any cell type of the human organism allows for large amounts of affected cells to be generated in culture, converting this hiPSC technology into a revolutionary tool in the study of the mechanisms of disease, drug discovery, and gene correction. In this review, we will summarize the current studies in which hiPSC were utilized to study cerebellar ataxias. Describing the currently available 2D and 3D hiPSC-based cellular models, and due to the fact that extracerebellar cells were used to model these diseases, we will discuss whether or not they represent a faithful cellular model and whether they have contributed to a better understanding of disease mechanisms.
Trvalý link: http://hdl.handle.net/11104/0275496