Therapeutic Strategies For Tay-Sachs Disease

被引：18

作者：

Picache, Jaqueline A. ^{[1
]}

Zheng, Wei ^{[1
]}

Chen, Catherine Z. ^{[1
]}

机构：

[1] NIH, Natl Ctr Adv Translat Sci, Bldg 10, Bethesda, MD 20892 USA

来源：

FRONTIERS IN PHARMACOLOGY | 2022年 / 13卷

基金：

美国国家卫生研究院;

关键词：

drug development; enzymatic assay; phenotypic screen; high throughput screen (HTS); mass spectrometry; tay-sachs disease (TSD); ENZYME REPLACEMENT THERAPY; MUCOPOLYSACCHARIDOSIS TYPE-I; SUBSTRATE REDUCTION THERAPY; GENE-THERAPY; POMPE-DISEASE; NEURODEGENERATIVE DISEASE; PHARMACOLOGICAL CHAPERONE; CELL TRANSPLANTATION; MASS-SPECTROMETRY; SANDHOFF-DISEASE;

D O I：

10.3389/fphar.2022.906647

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

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.

引用

页数：12

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