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Gene Therapy in Tyrosinemia: Potential and Pitfalls

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Hereditary Tyrosinemia

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 959))

Abstract

In this chapter, we intend to review gene therapy concepts applied to the potential treatment of tyrosinemia for parents and pediatricians. Therefore, our main objective is to give general informations in a comprehensible manner. Considering the nature of tyrosinemia and the current state of technology, a particular focus will be put on strategies using viral delivery of DNA to the liver. In light of the recent development of the CRISPR technology and the revival of promises for previously unavailable therapeutical tools, the present chapter aims at presenting up to date facts and potential pitfalls towards an application for metabolic diseases, in particular tyrosinemia.

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Abbreviations

AAV:

Adeno-associated virus

FIX:

Factor IXFAH Fumarylacetoacetate hydrolase

HDR:

Homology directed repair

HT1 Type 1 hypertyrosinemiaiPS:

Induced pluripotent stem cells

LCA:

Leber congenital amaurosis

NHEJ:

Non-homologous end-joining

NTBC:

[2-(2-nitro-4- trifluoromethyl benzoyl)-1–3-cyclohexanedione]

RGENS:

RNA-guided endonucleases

TALENs:

Transcription activator-like effector nuclease

ZFNs:

Zinc finger nucleases

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  1. Centre Hospitalier Universitaire de Québec Research Center and Faculty of Medicine, Centre de recherche du CHU de Québec – Université Laval 2705, boulevard Laurier, T-3-67, Québec, QC, G1V 4G2, Canada

    Sophie Carter & Yannick Doyon

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  1. Department of Molecular Biology, Medical Biochemistry and Pathology, Medical School, Université Laval, Québec, Québec, Canada

    Robert M. Tanguay

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Carter, S., Doyon, Y. (2017). Gene Therapy in Tyrosinemia: Potential and Pitfalls. In: Tanguay, R. (eds) Hereditary Tyrosinemia. Advances in Experimental Medicine and Biology, vol 959. Springer, Cham. https://doi.org/10.1007/978-3-319-55780-9_21

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