Exploiting epigenetics for the treatment of inborn errors of metabolism

Rutten, M. G. S., Rots, M. G. & Oosterveer, M. H., Jan-2020, In : Journal of Inherited Metabolic Disease. 43, 1, p. 63-70 8 p.

Research output: Contribution to journalReview articleAcademicpeer-review

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. Since 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. This article is protected by copyright. All rights reserved.

Original languageEnglish
Pages (from-to)63-70
Number of pages8
JournalJournal of Inherited Metabolic Disease
Issue number1
Early online date2019
Publication statusPublished - Jan-2020
EventAnnual Symposium of the Society-for-the-Study-of-Inborn-Errors-of-Metabolism (SSIEM) - Athens, Greece
Duration: 4-Sep-20187-Sep-2018


Annual Symposium of the Society-for-the-Study-of-Inborn-Errors-of-Metabolism (SSIEM)


Athens, Greece

Event: Conference


  • DNA methylation, (epi)genome editing, gene correction, histone modifications, inherited metabolic disease, therapy development, CLINICAL PRESENTATION, LYASE DEFICIENCY, DNA METHYLATION, MOUSE MODEL, IDENTIFICATION, HETEROGENEITY, DISORDERS, SERIES, GENES

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