2026-06-28T14:58:30Zhttps://docta.ucm.es/rest/oai/requestoai:docta.ucm.es:20.500.14352/1020472025-03-18T15:11:01Zcom_20.500.14352_14col_20.500.14352_15
Docta Complutense
author
Pérez Luz, Sara
author
Díaz-Nido, Javier
2024-03-07T16:09:51Z
2024-03-07T16:09:51Z
2010-07-05
10.1155/2010/642804
https://hdl.handle.net/20.500.14352/102047
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.
eng
Attribution 4.0 International
Prospects for the Use of Artificial Chromosomes and Minichromosome-Like Episomes in Gene Therapy
journal article
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URL
https://docta.ucm.es/bitstreams/af45ff45-4c2d-46d5-b458-bc44094c90cf/download
File
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application/pdf
1_Prospects for the Use of Artificial Chromosomes and Minichromosome-Like Episomes in Gene Therapy.pdf
URL
https://docta.ucm.es/bitstreams/0b97f399-3318-4937-a882-6a2027a0d735/download
File
MD5
d5da2916cde03b46d2ad275c0e55c07e
98905
text/plain
1_Prospects for the Use of Artificial Chromosomes and Minichromosome-Like Episomes in Gene Therapy.pdf.txt