GM2 gangliosidoses

Tay- Sachs disease is also known as β-hexosaminidase A deficiency or GM2 ganglioside. Mutation of the HEXA gene causes the α and β subunits to malfunction. In other words if the α-subunit which is responsible for the degradation of GM2 ganglioside into GM3 ganglioside is not produced then the hydrolyzing complex cannot form with GM2 activator protein. Eventually the damaged caused by the accumulation of toxic levels of GM2 gangliosides leads to the destruction of neurons, which causes the signs

Tay-Sachs Abstract Tay-Sachs is a disease caused by a mutation to the gene which codes for Hex A. Without Hex A, a cell cannot degrade GM2 ganglioside into GM3 ganglioside. This results in a build up of ganglioside’s in lysosomes of neurons. The result is varying degrees of mental deterioration. New DNA-based screening is currently being developed to replace the enzyme-based screening techniques that have been used since 1969. This will not only speed up the diagnosis, but also allow for

Tay-Sachs disease is caused by the HEXA gene. This gene provides instructions for making enzyme, beta-hexosamindase A, which is essential in brain, nerve, and spinal cord development. Mutations in this gene cause the beta-hexosamindase A from breaking down GM2 ganglioside which results in the accumulation of gangliosides in the brains nerve cells, thus causing Tay-Sachs disease. Tay-Sachs develops when very harmful gangliosides collect in the brains verve cells which ultimately result in death of the cells

characterized by hind limb spasticity, weight loss, tremors, abnormal posture with lordosis, and possibility of visual impairment. Muscle weakness, clasping of the limbs, and myoclonic twitches of the head that can be onset late in the disease. Research of the GM2 ganglioside has revealed that storage of the fatty substance varies a large Tay-Sachs Disease2 amount in different regions, but the majority resides in the pyriform cortex, hippocampus (CA3 field, subiculum), amygdala, hypothalamus (paraventricular

Review of the Literature Douglas Gilkinson Mercyhurst University – North East Campus Author Note This paper was prepared for English 120 – Writing and Research, taught by Mrs. Matz. Abstract There is a growing need for treatment of gangliosidoses, or the increase in lipid storage in cells. Diseases such as Tay-Sach’s, Sandhoff disease, Alzheimer’s and HIV are at the forefront of research into how these cells affect different aspects of the body. Gangliosides, the cells that store lipids