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Samenvatting

Gene therapy is currently considered as the optimal treatment for inborn errors of metabolism (IEMs), as it aims to permanently compensate for the primary genetic defect. However, emerging gene editing approaches such as CRISPR-Cas9, in which the DNA of the host organism is edited at a precise location, may have outperforming therapeutic potential. Gene editing strategies aim to correct the actual genetic mutation, while circumventing issues associated with conventional compensation gene therapy. Such strategies can also be repurposed to normalize gene expression changes that occur secondary to the genetic defect. Moreover, besides the genetic causes of IEMs, it is increasingly recognized that their clinical phenotypes are associated with epigenetic changes. Because epigenetic alterations are principally reversible, this may offer new opportunities for treatment of IEM patients. Here, we present an overview of the promises of epigenetics in eventually treating IEMs. We discuss the concepts of gene and epigenetic editing, and the advantages and disadvantages of current and upcoming gene-based therapies for treatment of IEMs.

Originele taal-2English
Pagina's (van-tot)63-70
Aantal pagina's8
TijdschriftJournal of Inherited Metabolic Disease
Volume43
Nummer van het tijdschrift1
Vroegere onlinedatum2019
DOI's
StatusPublished - jan-2020
EvenementAnnual Symposium of the Society-for-the-Study-of-Inborn-Errors-of-Metabolism (SSIEM) - Athens, Greece
Duur: 4-sep-20187-sep-2018

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