Lysosomal Storage Diseases: Current Therapies and Future Alternatives

Overview

Journal J Mol Med (Berl)

Specialty General Medicine

Date 2020 Jun 13

PMID 32529345

Citations 26

Authors

Andres Felipe Leal

Angela Johana Espejo-Mojica

Oscar F Sanchez

Carlos Manuel Ramirez

Luis Humberto Reyes

Juan C Cruz

Carlos Javier Almeciga-Diaz

Affiliations

Soon will be listed here.

Abstract

Lysosomal storage disorders (LSDs) are a group of monogenic diseases characterized by progressive accumulation of undegraded substrates into the lysosome, due to mutations in genes that encode for proteins involved in normal lysosomal function. In recent years, several approaches have been explored to find effective and successful therapies, including enzyme replacement therapy, substrate reduction therapy, pharmacological chaperones, hematopoietic stem cell transplantation, and gene therapy. In the case of gene therapy, genome editing technologies have opened new horizons to accelerate the development of novel treatment alternatives for LSD patients. In this review, we discuss the current therapies for this group of disorders and present a detailed description of major genome editing technologies, as well as the most recent advances in the treatment of LSDs. We will further highlight the challenges and current bioethical debates of genome editing.

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