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GM1 Gangliosidosis: Mechanisms and Management

Authors Rha AK, Maguire AS, Martin DR

Received 11 November 2020

Accepted for publication 15 January 2021

Published 9 April 2021 Volume 2021:14 Pages 209—233

DOI https://doi.org/10.2147/TACG.S206076

Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Prof. Dr. Martin H. Maurer


Allisandra K Rha,1 Anne S Maguire,1,2 Douglas R Martin1,2

1Scott-Ritchey Research Center, Auburn University, Auburn, AL, 36849, USA; 2Department of Anatomy, Physiology, and Pharmacology, Auburn University College of Veterinary Medicine, Auburn, AL, 36849, USA

Correspondence: Douglas R Martin
Scott-Ritchey Research Center, Auburn University, 1265 H.C. Morgan Drive, Auburn, AL, 36849, USA
Tel +1 334 844 5951
Email [email protected]

Abstract: The lysosomal storage disorder, GM1 gangliosidosis (GM1), is a neurodegenerative condition resulting from deficiency of the enzyme β-galactosidase (β-gal). Mutation of the GLB1 gene, which codes for β-gal, prevents cleavage of the terminal β-1,4-linked galactose residue from GM1 ganglioside. Subsequent accumulation of GM1 ganglioside and other substrates in the lysosome impairs cell physiology and precipitates dysfunction of the nervous system. Beyond palliative and supportive care, no FDA-approved treatments exist for GM1 patients. Researchers are critically evaluating the efficacy of substrate reduction therapy, pharmacological chaperones, enzyme replacement therapy, stem cell transplantation, and gene therapy for GM1. A Phase I/II clinical trial for GM1 children is ongoing to evaluate the safety and efficacy of adeno-associated virus-mediated GLB1 delivery by intravenous injection, providing patients and families with hope for the future.

Keywords: GM1 gangliosidosis, gene therapy, biomarkers, chaperone, GLB1, LSD

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