scholarly journals Gene therapy protects heart in Friedreich's ataxia

2014 ◽  
Vol 13 (6) ◽  
pp. 417-417
Author(s):  
Alexandra Flemming
Keyword(s):  
Gene Therapy ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia

scholarly journals Future Prospects of Gene Therapy for Friedreich’s Ataxia

2021 ◽  
Vol 22 (4) ◽  
pp. 1815 ◽  
Author(s):  
Gabriel Ocana-Santero ◽  
Javier Díaz-Nido ◽  
Saúl Herranz-Martín
Keyword(s):  
Gene Therapy ◽  
Viral Vectors ◽  
Autosomal Recessive ◽  
State Of The Art ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
First Intron ◽  
Progressive Neurodegeneration ◽  
Feasible Solutions ◽  
Neurogenetic Disease

Friedreich’s ataxia is an autosomal recessive neurogenetic disease that is mainly associated with atrophy of the spinal cord and progressive neurodegeneration in the cerebellum. The disease is caused by a GAA-expansion in the first intron of the frataxin gene leading to a decreased level of frataxin protein, which results in mitochondrial dysfunction. Currently, there is no effective treatment to delay neurodegeneration in Friedreich’s ataxia. A plausible therapeutic approach is gene therapy. Indeed, Friedreich’s ataxia mouse models have been treated with viral vectors en-coding for either FXN or neurotrophins, such as brain-derived neurotrophic factor showing promising results. Thus, gene therapy is increasingly consolidating as one of the most promising therapies. However, several hurdles have to be overcome, including immunotoxicity and pheno-toxicity. We review the state of the art of gene therapy in Friedreich’s ataxia, addressing the main challenges and the most feasible solutions for them.

Stress-Induced Mouse Model of the Cardiac Manifestations of Friedreich's Ataxia Corrected by AAV-mediated Gene Therapy

2020 ◽  
Vol 31 (15-16) ◽  
pp. 819-827 ◽  
Author(s):  
Christiana O. Salami ◽  
Katie Jackson ◽  
Clarisse Jose ◽  
Laith Alyass ◽  
Georges-Ibrahim Cisse ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Cardiac Manifestations

Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia

2014 ◽  
Vol 20 (5) ◽  
pp. 542-547 ◽  
Author(s):  
Morgane Perdomini ◽  
Brahim Belbellaa ◽  
Laurent Monassier ◽  
Laurence Reutenauer ◽  
Nadia Messaddeq ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Mitochondrial Cardiomyopathy

scholarly journals Particle-mediated delivery of frataxin plasmid to a human sensory neuronal model of Friedreich's ataxia

2020 ◽  
Vol 8 (9) ◽  
pp. 2398-2403
Author(s):  
Ewa Czuba-Wojnilowicz ◽  
Serena Viventi ◽  
Sara E. Howden ◽  
Simon Maksour ◽  
Amy E. Hulme ◽  
...  
Keyword(s):  
Gene Expression ◽  
Gene Therapy ◽  
Cell Model ◽  
Fold Increase ◽  
Friedreich’S Ataxia ◽  
Neuronal Model ◽  
Friedreich's Ataxia ◽  
Frataxin Gene

Multilayered particles in gene therapy for Friedreich's ataxia induce a 27 000-fold increase in frataxin gene expression in a patient-derived cell model.

scholarly journals Prospects for the Use of Artificial Chromosomes and Minichromosome-Like Episomes in Gene Therapy

2010 ◽  
Vol 2010 ◽  
pp. 1-16 ◽  
Author(s):  
Sara Pérez-Luz ◽  
Javier Díaz-Nido
Keyword(s):  
Gene Therapy ◽  
Genetic Diseases ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Regulatory Sequences ◽  
Mitotic Chromosomes ◽  
Physiological Regulation ◽  
Artificial Chromosomes ◽  
Recessive Mutations ◽  
Dividing Cells

Artificial chromosomes and minichromosome-like episomes are large DNA molecules capable of containing whole genomic loci, and be maintained as nonintegrating, replicating molecules in proliferating human somatic cells. Authentic human artificial chromosomes are very difficult to engineer because of the difficulties associated with centromere structure, so they are not widely used for gene-therapy applications. However, OriP/EBNA1-based episomes, which they lack true centromeres, can be maintained stably in dividing cells as they bind to mitotic chromosomes and segregate into daughter cells. These episomes are more easily engineered than true human artificial chromosomes and can carry entire genes along with all their regulatory sequences. Thus, these constructs may facilitate the long-term persistence and physiological regulation of the expression of therapeutic genes, which is crucial for some gene therapy applications. In particular, they are promising vectors for gene therapy in inherited diseases that are caused by recessive mutations, for example haemophilia A and Friedreich's ataxia. Interestingly, the episome carrying the frataxin gene (deficient in Friedreich's ataxia) has been demonstrated to rescue the susceptibility to oxidative stress which is typical of fibroblasts from Friedreich's ataxia patients. This provides evidence of their potential to treat genetic diseases linked to recessive mutations through gene therapy.

Otoneurological Findings in Friedreich's Ataxia and Other Inherited Neuropathies

1986 ◽  
Vol 25 (2) ◽  
pp. 84-91 ◽  
Author(s):  
E. Cassandro ◽  
F. Mosca ◽  
L. Sequino ◽  
F. A. De Falco ◽  
G. Campanella
Keyword(s):  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Inherited Neuropathies
Sign in / Sign up

Export Citation Format

Share Document