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Therapeutic Strategies For Tay-Sachs Disease.

ABSTRACT: Tay-Sachs disease (TSD) is an autosomal recessive disease that features progressive neurodegenerative presentations. It affects one in 100,000 live births. Currently, there is no approved therapy or cure. This review summarizes multiple drug development strategies for TSD, including enzyme replacement therapy, pharmaceutical chaperone therapy, substrate reduction therapy, gene therapy, and hematopoietic stem cell replacement therapy. In vitro and in vivo systems are described to assess the efficacy of the aforementioned therapeutic strategies. Furthermore, we discuss using MALDI mass spectrometry to perform a high throughput screen of compound libraries. This enables discovery of compounds that reduce GM2 and can lead to further development of a TSD therapy.

SUBMITTER: Picache JA

PROVIDER: S-EPMC9294361 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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Therapeutic Strategies For Tay-Sachs Disease.

Picache Jaqueline A JA Zheng Wei W Chen Catherine Z CZ

Frontiers in pharmacology 20220705

Tay-Sachs disease (TSD) is an autosomal recessive disease that features progressive neurodegenerative presentations. It affects one in 100,000 live births. Currently, there is no approved therapy or cure. This review summarizes multiple drug development strategies for TSD, including enzyme replacement therapy, pharmaceutical chaperone therapy, substrate reduction therapy, gene therapy, and hematopoietic stem cell replacement therapy. <i>In vitro</i> and <i>in vivo</i> systems are described to as ...[more]

PMID: 35865957

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New Approaches to Tay-Sachs Disease Therapy.

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Project description: Not available

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