27. Future perspectives for Tay-Sachs disease

Abstract

Publisher Summary This chapter discusses that researchers are currently investigating a variety of intriguing experimental approaches to treat neurodegenerative lysosomal storage disorders like Tay-Sachs disease (TSD). These include substrate deprivation, chemical chaperones, neural stem cell transplantation, and in vivo treatment with chimeric oligonucleotides. Substrate deprivation therapy is designed to decrease the rate of substrate accumulation by inhibition of an early enzyme in the synthesis of the glycolipid precursors of G M2 ganglioside. Potential therapeutic approach for the chronic and adult-onset patients with G M2 gangliosidosis involves the use of small inhibitors that act as chemical chaperones for unstable enzymes with residual activity. Experimental transplantation of neural stem cells in the central nervous system of animal models with various lysosomal diseases is currently underway in several laboratories. Understanding and supporting their needs, medical and emotional, is the cornerstone of medical management for many families who have an affected child, particularly if they have no normal children. The extension of prenatal carrier screening to premarital carrier screening has also proven effective and has met the special cultural needs of the religious community.