GM2-gangliosidosis

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

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

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

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

Neurodegenerative Disorders: A link between genetics and gangliosidosis. A 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

Tay-Sachs disease is also known as: B Variant GM2 gangliosidosis, GM2 gangliosidosis type 1, Hex A deficiency, Hexosaminidase A deficiency, Hexosaminidase alpha – subunit deficiency (Variant B), sphingolipidosis, and TSD. The main cause of Tay-Sachs is a defective Hex-A gene, and an absence of a significant enzyme known as hexosaminidase. A gene on the fifteenth chromosome codes for the generation of Hex-A, and does not function properly in Tay-Sachs patients. Each person has is intended to have

to the inhibited activity of the hydrolase enzyme b-Hexosaminidase-A (HEX A). The Hex A gene is on the q arm of chromosome 15. When mutated the breakdown of ganglioside from disialotetrahexosylganglioside (GM2) to monosialodihexosylganglioside (GM3) is defective. This results in a buildup of GM2 in the lysosomes in nerve cell. These lysosomes swell in size and can rupture resulting in many neurological defects and hepatosplenomegaly. The accumulation and burst of the lysosome manifest itself in three

The term ganglioside lipid was thought of because of the high abundance of the brain lipid in normal ganglion cell, a type of brain cell. Other names Tay Sachs disease is known by are B variant GM2 gangliosidosis, GM2 gangliosidosis, type 1, HexA deficiency, Hexosaminidase alpha-subunit deficiency, (variant B), Sphingolipidosis (Genetics Home Reference, 2017). Tay Sachs disease is diagnosed by prenatal tests, such as chorionic villus sampling (CVS) and amniocentesis

Hello, Im Dr. Flores. I'm sorry but we believe that your child may be at risk to having Tay-Sachs Disease also known as GM2 gangliosidosis. She does not roll over like most babies, a little weak, and exaggerated responses to sudden noises, and both of you are of eastern and central European Jewish heritage which puts you at a higher risk to having Tay-Sachs. We’re gonna run a few test to confirm if your daughter has it…We’ve received the results back from the lab and i'm sorry to say but you're daughter

disease is also known as GM2 gangliosidosis or hexosaminidase-A deficiency ("Wikipedia," 2007, p. 1) 6. Tay - Sachs disease affects the chromosome number fifteen that codes for the production of enzyme hexosaminidase-A (Hex-A) ("Learning about Tay-Sachs Disease," 2011, p. 1)2. The disease is not related to any other factors, such as, alcoholism, drug abuse, or nervous conditions. The disorder is such that the chromosome fails to produce the Hex-A enzyme. Without Hex-A, GM2 ganglioside accumulates