title: Animal and cellular models of Friedreich ataxia.
abstract: The development and use of animal and cellular models of Friedreich ataxia (FRDA) are essential requirements for the understanding of FRDA disease mechanisms and the investigation of potential FRDA therapeutic strategies. Although animal and cellular models of lower organisms have provided valuable information on certain aspects of FRDA disease and therapy, it is intuitive that the most useful models are those of mammals and mammalian cells, which are the closest in physiological terms to FRDA patients. To date, there have been considerable efforts put into the development of several different FRDA mouse models and relevant FRDA mouse and human cell line systems. We summarize the principal mammalian FRDA models, discuss the pros and cons of each system, and describe the ways in which such models have been used to address two of the fundamental, as yet unanswered, questions regarding FRDA. Namely, what is the exact pathophysiology of FRDA and what is the detailed genetic and epigenetic basis of FRDA?
authors.affiliation: Translational Medecine and Neurogenetics, IGBMC-Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
authors.forename: Morgane
authors.initials: M
authors.lastname: Perdomini
authors.forename: Aurore
authors.initials: A
authors.lastname: Hick
authors.forename: Hélène
authors.initials: H
authors.lastname: Puccio
authors.forename: Mark A
authors.initials: MA
authors.lastname: Pook
mesh_terms: D000818:Animals; D002460:Cell Line; D042622:DNA Repeat Expansion; D004195:Disease Models, Animal; D044127:Epigenesis, Genetic; D005621:Friedreich Ataxia / Q000235:genetics / Q000473:pathology*; D015870:Gene Expression / Q000502:physiology; D020868:Gene Silencing; D006801:Humans; D033862:Iron-Binding Proteins / Q000235:genetics / Q000502:physiology; D051379:Mice; D017354:Point Mutation / Q000235:genetics; D000096923:Frataxin
chemical_list: D033862:Iron-Binding Proteins; D000096923:Frataxin
keywords: Friedreich ataxia; GAA repeat expansion; frataxin; induced pluripotent stem cells; mismatch repair; mouse model