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Inherited Metabolic Disorders of the Liver

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Abstract

Inherited metabolic disorders (IMD) include more than 70 monogenetic disorders that are mostly associated with enzyme deficiencies. Although IMDs are rarely diagnosed, their combined incidence among full-term neonates has been estimated to account for 20 % of illnesses. One of the most common IMDs originating in the liver and necessitating transplantation is α1-antitrypsin deficiency. Although several in vitro and in vivo models have been used to study this disease, the application of patient-specific hIPSCs and their differentiation to hepatic lineages has allowed not only physiologically relevant insights into the disease mechanisms but also provides the opportunity to understand patient-patient variabilities in phenotypes and sets the stage for the identification of novel biomarkers and the design of drugs that target them. This chapter discusses the wide application range of hIPSCs and addresses how this cellular system can meet previous shortcomings in advancing research into the molecular mechanisms of disease.

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  1. Wellcome Trust-MRC Stem Cell Institute, Anne McLaren Laboratory, Department of Surgery, University of Cambridge, Cambridge, CB2 0SZ, UK

    Charis-P. Segeritz & Ludovic Vallier

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  1. Charis-P. Segeritz
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  2. Ludovic Vallier
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  1. Keio University School of Medicine, Department of Cardiology, Tokyo, Tokyo, Japan

    Keiichi Fukuda

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Segeritz, CP., Vallier, L. (2016). Inherited Metabolic Disorders of the Liver. In: Fukuda, K. (eds) Human iPS Cells in Disease Modelling. Springer, Tokyo. https://doi.org/10.1007/978-4-431-55966-5_7

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