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Tay-Sachs Disease

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by

Brittany Cathey

on 3 November 2013

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Transcript of Tay-Sachs Disease

How does someone get Tay-Sachs Disease?
Tay-Sachs disease results from mutations in chromosome 15. The mutation effects the protein Hexosaminidase (HEXA) gene on the chromosome which causes a fatty substance, GM2 Ganglioside to build up in the brain causing damage to many cells. The Amino Acid substitution to cause this mutation is unfortunately unknown. This is a autosomal recessive trait.
What is Tay-Sachs Disease?
Tay-Sachs disease is a neurological disease that progressively destroys nerve cells in the brain and spinal cord. It most commonly becomes apparent in infants ranging in age from 3-6 months.
Tay-Sachs Disease
By: Chloe and Brittany
Who Get it?
Tay-Sachs disease is most common among the Ashkenazi Jewish population. About 1 in every 27 Ashkenazi Jew carries the recessive gene for the disease.
Test
You can be tested for this disease by going to a doctor and having a test ran. The doctor will take samples of your blood and tissue to see if there is any trace of HEXA levels. If you are pregnant a test can be ran using amniocetesis, in this procedure a needle is used to take a sample of the fluid surrounding the baby. To have this test performed you must be at least 16 weeks pregnant.
Conclusion Questions
4.Why did changing a nucleotide in the DNA code for B-globin change the characteristics of hemoglobin?
Due to a change in the nucleotide a completely different protein is coded for. The normal protein has glutamic acid which is hydrophilic. that mutated protein has valine which is hydrophobic. This will cause the protein to change shape.
5. Explain why the replacement of the glutamic acid by valine changes the way the molecules of B-globin interact with each other.
Since valine is hydrophobic so it will repel water and move to join with the other hydrophobic molecules.
6. Predict what would happen to the hemoglobin protein and how two hemoglobin molecules might interact if instead of the glutamic acid at position six of b-globin being replaced by a valine, it was replaced by aspartic acid.
Since Aspartic Acid is hydrophilic, just like glutamic acid, I believe that it would work the same as if there were no change to the protiens shape.
Symptoms:
Deafness
Blindness
Dementia
Delayed mental and social skills
Decreased muscle tone
Irritability
Becoming paralyzed
Seizures
Slow Growth
Sources
Tay-Sachs Disease - Symptoms, Diagnosis, Treatment of Tay-Sachs Disease - NY Times Health Information . (n.d.). Health News - The New York Times. Retrieved April 6, 2013, from http://health.nytimes.com/health/guides/disease/tay-sachs-disease/overview.html
Tay-Sachs Testing. (n.d.). Nervous System Home Page. Retrieved April 6, 2013, from http://nervous-system.emedtv.com/tay-sachs-disease/tay-sachs-testing.html
ACOG - Screening for Tay - Sachs Disease. (n.d.). ACOG - American Congress of Obstetricians and Gynecologists. Retrieved April 6, 2013, from http://www.acog.org/Resources%20And%20Publications/Committee%20Opinions/Committee%20on%20Genetics/Screening%20for%20Tay%20-%20Sachs%20Disease.aspx
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