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Pathology of Tay Sachs Disease Essays

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TAY-SACHS DISEASE The disease is named after Warren Tay (1843-1927), a British ophthalmologist and Bernard Sachs a New York neurologist. Warren Tay discovered a patient with a cherry- red- spot on the retina of the eye which has become a clear signal of Tay-sachs disease. Later on Bernars Sachs described the cellular changes in Tay-Sachs disease. Tay-Sachs disease is a rare autosomal recessive genetic disorder that gradually destroys nerve cells in the brain and spinal cord. Mutation in the HEXA gene on chromosome 15 causes Tay-Sachs disease. The HEXA gene gives instruction to make a part of an enzyme called β-hexosaminidase A, this enzymes plays a critical role in the brain and spinal cord. The enzyme is compromised on an…show more content…
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 and symptoms of Tay- Sachs disease and at last causing death of the patient. The progressive neurodegeneration depends upon the speed and degree of GM2 ganglioside accumulation, which directly relies on the level of β-hoxosaminidase A present in the body. Almost 95 - 130 mutations have been reported so far in the HEXA gene to cause Tay-Sachs disease. The mutation varies from base substitution, deletion, insersion to complex gene rearrrangement. But the most common mutation that results Tay-sach disease is a four base pair delition located in exon 11. The second fairly common mutation is a splice junction mutation found at intron 12. Most of these mutations are private mutations and have been present in a single or few families. Only few mutations have
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