Tay sachs case study with data

Tay—Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. Tay—Sachs disease is caused by a genetic mutation in the HEXA gene on chromosome 15 , which codes for a subunit of the hexosaminidase enzyme known as hexosaminidase A. The treatment of Tay—Sachs disease is supportive in nature. The disease is named after British ophthalmologist Waren Tay , who in first described a symptomatic red spot on the retina of the eye; and American neurologist Bernard Sachs , who described in the cellular changes and noted an increased rate of disease in Ashkenazi Jews. Tay—Sachs disease is typically first noticed in infants around 6 months old displaying an abnormally strong response to sudden noises or other stimuli, known as the "startle response". There may also be listlessness or muscle stiffness hypertonia.
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Human genetic variation - Wikipedia

A shining example of the effects of a malfunctioning organelle occurs in Tay-Sachs disease. Tay- Sachs disease is a lysosomal disorder that is caused by a faulty lysosome. Lysosomes are membranous sacs of enzymes that are typically are involved in the digestion. 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.
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Human genetic variation

The dataset supporting the conclusion of this article is available in the ClinVar repository. GM2 gangliosidosis-AB variants a rare autosomal recessive neurodegenerative disorder occurring due to deficiency of GM2 activator protein resulting from the mutation in GM2A gene. Only seven mutations in nine cases have been reported from different population except India. Present case is a one year old male born to 3rd degree consanguineous Indian parents from Maharashtra. He was presented with global developmental delay, hypotonia and sensitive to hyperacusis.
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Arsenate can replace inorganic phosphate in step 6 of glycolysis that produces 1,3-bisphosphoglycerate instead of glyceraldehyde 3-phospahte. This yields 1-arsenophosphoglycerate instead, which is unstable and quickly hydrolyzes, forming the next intermediate in the pathway, 3-phosphoglycerate. This is the same product that is normally formed in step 7.
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