Genome editing in mucopolysaccharidoses and mucolipidoses


Mucopolysaccharidoses (MPS) and mucolipidoses (ML) are disorders that alter lysosome function. While MPS are caused by mutation in enzymes that degrade glycosaminoglycans, the ML are disorders characterized by reduced function in the phosphotransferase enzyme. Multiple clinical features are associated with these diseases and the exact mechanisms that could explain such different clinical manifestations in patients are still unknown. Furthermore, there are no curative treatment for any of MPS and ML conditions so far. Gene editing holds promise as a tool for the creation of cell and animal models to help explain disease pathogenesis, as well as a platform for gene therapy. In this chapter, we discuss the main studies involving genome editing for MPS and the prospect applications for ML. Copyright © 2021 Elsevier Inc. All rights reserved.

Authors Santos HS, Poletto E, Schuh R, Matte U, Baldo G
Journal Progress in molecular biology and translational science
Publication Date 2021;182:327-351
PubMed 34175047
DOI 10.1016/bs.pmbts.2021.01.026

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