Tay-Sachs Disease and HEXA Gene Mutations _ Genome Disfunction Review

Tay-Sachs disease is a fatal autosomal recessive disorder caused by mutations in the HEXA gene, leading to the accumulation of gangliosides in neuronal cells due to deficient beta-hexosaminidase A enzyme activity. This lysosomal storage disorder primarily affects the central nervous system, resulting in progressive neurological degeneration. This article examines the genetic basis of Tay-Sachs disease, its clinical manifestations across infantile, juvenile, and adult-onset forms, and emerging therapeutic strategies such as enzyme replacement therapy, substrate reduction therapy, and gene therapy. These advances provide hope for altering the disease's course in the future.