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Tay Sachs

Tay Sachs. Jack Lichtman. How it occurs. A defective 15 th chromosome causes an abnormal buildup of GM2 ganglioside in the brain and spinal cord.

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Tay Sachs

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  1. Tay Sachs Jack Lichtman

  2. How it occurs • A defective 15th chromosome causes an abnormal buildup of GM2 ganglioside in the brain and spinal cord. • The HEXA gene in the 15th chromosome is responsible for making the enzyme beta-hexosaminidase A which are responsible for breaking down GM2 ganglioside.

  3. History of Tay Sachs • Found by Warren Tay and Bernard Sachs • Both first found the disease in Jewish families. • During the time what immigration was high the nativists thought Jews were inferior because some showed the Tay Sachs disease. • In 1969 Shintaro Okada and John S. O’Brien showed that Tay Sachs is caused by an enzyme defect.

  4. Can it be passed on • If both parents are carriers of the gene then they have a 1 in 4 chance of having a non carrier, a 1 in 2 chance of having a child who is a carrier and a 1 in 4 chance of having a child with the disease

  5. Type of Mutation • Tay Sachs is a genetic mutation and it occurs on the 15th chromosome • Frame shift Mutation

  6. Diagnosis • Deafness • Decreased eye contact, Blindness • Decreased muscle tone • Delayed mental and social skills • Dementia • Paralysis • Seizures • Enzyme assay techniques: Detects the lower levels of hexosaminidase A. • Mutation Analysis techniques: They look at the DNA to find the defect

  7. Treatment • There is know cure for the disease itself so doctors focus more on treating the symptoms. • Gene therapies are being attempted in order to stop the deadly disease

  8. Bibliography • Works Cited • Goldberg, Carey. "First Human Gene Therapy Trial Planned for Deadly Tay-Sachs Disease." Common Health: n. pag. Web. 18 Nov. 2012. <http://commonhealth.wbur.org/2011/11/tay-sachs-human-trial>. • "Tay-Sachs Disease." Kids Health. N.p., n.d. Web. 18 Nov. 2012. <http://kidshealth.org/parent/medical/genetic/tay_sachs.html>. • "Tay-Sachs Disease." MedlinePlus. U.S National Library of Medicine, n.d. Web. 18 Nov. 2012. <http://www.nlm.nih.gov/medlineplus/ency/article/001417.htm>. • "Tay-Sachs Disease." National Tay-Sachs and Allied Diseases. N.p., n.d. Web. 18 Nov. 2012. <http://www.tay-sachs.org/taysachs_disease.php>. • "Tay-Sachs Disease." New York Times: n. pag. Web. 18 Nov. 2012. <http://health.nytimes.com/health/guides/disease/tay-sachs-disease/overview.html>.

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