Basically, Tay Sachs disease in a genetic disorder that always results in the destruction of the nerve cells in the brains as well as the spinal cord. It basically becomes apparent around 3-6 months of age of a baby casing the loss of the ability to turn over also sit and crawl.
The result of the same is the hering problem as well as the inability to move.Psychological support of the family ids the major treatment of the disease. Ashkenazi Jews however were the major people who were affected by the disease at the birth. Ashkenazi Jews are however a recessive carrier of the same where in 1960 as well as the 70s the biochemical basis of the Tay -Sachs disease which was becoming know where no mutation was had been sequenced directly to genetic diseases.
Tay-Sach results where a child is inherited mutations from both parents that will stop the biodegrading of the gangliosides.HEXA mutations are inactive, alter or inhibit enzyme active. In this case when the disease occurs because of the unrelated mutations the patient is said to be a compound heterozygote The biochemical reason for the wild type alleles dominance over the nonfunctional mutant alleles in inborn error metabolism basically comes from the chemical reaction. Tay-Sachs disease is an inherited disorder that leads to the destruction of neurons in the brain as well as the spinal cord. This is as a result of progressive destruction of the nervous system .The disease results from defects of the gene on chromosome 15 that will code the production of the enzyme to prevent the abnormal build up of the GM2 ganglioside lipid. H2O2, nitric oxide (NO), superoxide anion and the reactive hydroxyl as well as the monoxide (OH NO). Damaged as well as and activated microglia which eventually acts as reservoir of ROS.
Initially ROs generation is always believed to be an outcome of imbalance which is between generation as well as the elimination of the ROS and RNS. Tay-sachs is basically caused by the absence of the vital enzyme which is called hexosaminidase-A.Its basically a fatty substance,or lipid called GM2 ganglioside which will accumulate in the cell especially in the nerve cells of the brain which damage the cells.