Author:
Maheshwari Saumya,Vilema-Enríquez Gabriela,Wade-Martins Richard
Abstract
AbstractFriedreich ataxia (FRDA) is a rare genetic multisystem disorder caused by a pathological GAA trinucleotide repeat expansion in the FXN gene. The numerous drawbacks of historical cellular and rodent models of FRDA have caused difficulty in performing effective mechanistic and translational studies to investigate the disease. The recent discovery and subsequent development of induced pluripotent stem cell (iPSC) technology provides an exciting platform to enable enhanced disease modelling for studies of rare genetic diseases. Utilising iPSCs, researchers have created phenotypically relevant and previously inaccessible cellular models of FRDA. These models enable studies of the molecular mechanisms underlying GAA-induced pathology, as well as providing an exciting tool for the screening and testing of novel disease-modifying therapies. This review explores how the use of iPSCs to study FRDA has developed over the past decade, as well as discussing the enormous therapeutic potentials of iPSC-derived models, their current limitations and their future direction within the field of FRDA research.
Graphical abstract
Funder
LifeArc
Ataxia UK
Friedreich's Ataxia Research Alliance
EndFA
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Cognitive Neuroscience,Neurology (clinical)
Cited by
2 articles.
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