New Approaches to Correcting Metabolic Errors in Tay-Sachs

Abstract

Tay-Sachs Disease (TSD) is a neurodegenerative disorder categorized as both a gangliosidosis and a lysosomal storage disease. Tay-Sachs is caused by a deficiency in the enzyme ?-hexosaminidase A (Hex A). There is no current remedy available for TSD. However, there have been promising studies and breakthroughs on the use of gene therapy to cure Tay-Sachs, and these studies will be discussed in this review article. Initial progress was made using a cell line model for TSD which led to subsequent studies in HEXA null knock-out mice and mice with Sandhoff disease (a related disease involving the same enzyme). Eventually, researchers were able to transduce the brain of Sandhoff mice correcting the diseases neurological symptoms. Most recently, felines with Sandhoff disease were also successfully treated with gene therapy. Advances made in lifespan, quality of life, and relative safety of the treatment in animal models implies a readiness for human trials.