Tay Sachs Research Paper Essay Research Paper

7 July 2017

Tay Sachs Research Paper Essay, Research Paper

Tay Sachs Research Paper Essay Research Paper Essay Example


There are many familial diseases in the universe. All familial diseases are inherited from one & # 8217 ; s parents. Through Gregor Mendel & # 8217 ; s surveies of genetic sciences, it is possible for people to find whether or non an person will inherit a familial disease. All familial upsets are recessionary traits ( Campbell ) . We have learned that if a parent has a familial disease and the other parent does non hold a familial disease, all of their kids will be bearers, or have the trait, of the disease. If both parents are bearers of a familial disease, one out of the four kids will acquire the disease. Some of the most common familial upsets today are sickle cell anaemia, muscular dystrophy, cystic fibrosis, haemophilia, and Tay-Sachs disease. Most of the diseases normally is prevailing in a race of people or in gender ( Campbell ) . Today through modern engineering, we are able to observe whether a kid will hold a familial disease through the methods of amniocentesis and chorionic Villa sample ( Campbell ) . One of the familial upsets that doesn & # 8217 ; t have a batch of attending is Tay-Sachs disease. Tay-Sachs can be really deadly.


What is Tay-Sachs Disease?

Tay-Sachs Disease is a birth defect caused by a dysfunctional enzyme that fails to breakdown group of encephalon lipoids, or fat ( Campbell ) . The cause of the dysfunctional enzyme is caused by a lack of an enzyme called Hexosominidase A, or Hex A which is suppose to interrupt down fatty substances in the nervus cells of the encephalon. When the lipoids, or fats, builds up in the encephalons nerve cells, it leads to a slow devolution of the cells of the nervous system, therefore conveying decay of the cerebellum. This impairment can be view on Magnetic Resonance Imaging ( MRI ) ( webknx.com ) . The fatty substance that Hex A does non interrupt down is called ganglioside GM2. Ganglioside GM2 accumulates on the encephalon cells and can non be broken down. Gangliosides are made and bio-degraded rapidly in the early development of the encephalon ( www.ninds.nih ) . When Hex A activity is deficient, accretion of ganglioside GM2 in the nerve cells affects the operation of the nervous system.

How is Tay-Sachs Transmitted?

Tay-Sachs disease, unlike other diseases, is transmitted by a individual & # 8217 ; s familial brand up. Tay- Sachs can merely be transmitted if a individual has both recessionary allelomorphs for the trait ( Campbell ) . In order for a kid to acquire Tay-Sachs his or her parents must be bearers of the Tay-Sachs cistron. Tay-Sachs bearers are non afflicted with Tay-Sachs. They can populate normal and heathy lives ( www.noah ) . If at least one parent is a bearer of the disease, two out of four off the progeny will be a bearer of the disease. If both parents are bearers of the disease, one out of four kids will non be a bearer, two out of four of the kids will be a bearers of the disease, and on out of four of the kids will really hold the Tay-Sachs disease ( www.webknx ) . Figure 1 ( www.mrcr2 ) is a tabular array that shows how two carries for Tay-Sachs disease can go through either Tay-Sachs trait or Tay-Sachs Disease to their kids.

Figure 1

Who Gets Tay-Sachs Disease?

Tay-Sachs Disease is common among people of Eastern Europeans ( Ashkenazi ) Jewish decent, Cajun, and French-Canadian decent ( www.noah ) . Although some people of French-Canadian and Cajun ancestry acquire Tay-Sachs, the disease is preponderantly found among Ashkenazi Jews. In the United States, about one out of 60 thousand people who have the Tay-Sachs disease are in the Judaic population while one out of 14 thousand are afflicted with Tay-Sachs in Israel About one out of 30 Jews in America bearers the Tay-Sachs disease trait ( www.webknx ) . Are at that place Different Forms of the Tay-Sachs disease?

There are different signifiers of Tay-Sachs. There is the common childish Tay-Sachs, normally called juvenile Tay-Sachs. In childish Tay-Sachs the enzyme Hex A is non present to interrupt down lipoids in the encephalon cells. The other signifier of Tay-Sachs is the grownup oncoming of Tay-Sachs. Adult onset of Tay-Sachs differs from childish Tay-Sachs because there are low degrees of Hex A enzyme in the encephalon cells. But like childish Tay-Sachs, grownup oncoming of Tay-Sachs still do impairment of the encephalon cells. In childish Tay-Sachs, the kid affected normally dies around the 5th twelvemonth of their lives. Peoples with big onset Tay-Sachs normally die around their 15th birthday ( www.noah ) .

What Are the Symptoms of Tay-Sachs Disease?

Symptoms of Tay-Sachs Disease can be painful and hard to cover with. Most of the symptoms of Tay-Sachs are physical symptoms. These symptoms can dwell of manus shudders, awkwardness, address hindrances, get downing troubles, jobs with pace and balance, and musculus failing. Other jobs with Tay-Sachs included temper changes, unnatural behaviour, Muscular Dystrophy, Multiple Sclerosis, and Amyotrophic Lateral Sclerosis. Not all symptoms of Tay-Sachs are physical ( www.webknx ) . Most patient with Tay-Sachs develop mental unwellness and suffer from psychological jobs. Psychological symptoms of Tay-Sachs are memory damage, trouble in comprehension accomplishments, and hapless public presentation in school. Loss of memory is really common among Tay-Sachs patients ( www.webknx1 ) . Babies who inherit the Tay-Sachs Disease normally have a shut down of their nervous system. First marks of a infant holding Tay-Sachs diseases are bit by bit loss of smiling, creeping, turning over, loss of ability to hold on objects, sightlessness, palsy, and unknowingness of milieus ( www.noah ) .

How Can a Person Find Out if They Are a Carrier of Tay-Sachs Disease?

A individual can happen out whether or non they a

rhenium bearer of the Tay-Sachs Disease by seeing a geneticist. The geneticist would take sample of a person’s Deoxyribonucleic acid and analyse it for the enzymes hexosaminidase A and hexosaminidase B. The geneticist would so look for mutants in the two enzymes. If a mutant is found, the individual is perchance a bearer for Tay-Sachs Disease ( Triggs- Raine ) .

How Can One Find Out if Their Child would Have or Be a Carrier of The Tay-Sachs Disease?

If an expectant female parent wants to cognize if her kid will hold Tay-Sachs or be a bearer of the disease, she would travel see her obstetrician for familial showing. The obstetrician will either execute an amniocentesis or chorionic villus sampling, or CVS ( Campbell and www.noah ) . In amniocentesis, which is normally done between the fifteenth and 18th hebdomad of gestation, a acerate leaf is inserted into the female parent & # 8217 ; s venters to take sample of the amniotic sac fluid that surrounds the foetus. The fluid contains foetal cells that can be examined for the presence of the enzyme hex A. In CVS, which is normally done during the ten percent to twelfth hebdomad of gestation, the physician would take samples of cells either through a thin tubing inserted through the vagina and neck to the placenta or by infixing a long acerate leaf through the female parent & # 8217 ; s tummy. Like the amnionic fluid, the placenta cells contain hex A ( www.noah ) . Amniocentesis is done by centrifugating the amnionic fluid, salvaging the pellet for a civilization to be karyotyped. This method is clip devouring whereas with CVS the consequences of the karyotyping can be revealed within twenty four hours ( Campbell ) .

Are there Any Recent Scientific Studies on Tay-Sachs Disease?

Although Tay-Sachs Disease is non reference every bit much as other familial upsets, such as reaping hook cell anaemia, there is recent research being done on Tay-Sachs. There was a trial done to test bearer of the Tay-Sachs disease. The trial consisted of a comparing of DNA-based and enzyme-based trials. In the trials, scientist looked for the substance ganglioside GM2 in each of it & # 8217 ; s topics. They so compared the enzyme-based trial with the Deoxyribonucleic acid based trial. After comparing the analysis of both trials, the scientists concluded that there were three mutants of Tay-Sachs Disease. Two of the mutants cause childish Tay-Sachs and the 3rd was big oncoming of Tay-Sachs. The mutant of Tay-Sachs were found on the DNA polymerase ironss ( Triggs- Raine ) .

The DNA- and enzyme-based trials were performed on about 62 Ashkenazi Jews who carried the cistron for Tay-Sachs. The study didn & # 8217 ; t province whether the people being tested really had Tay-Sachs or if they merely carried the cistron for Tay-Sachs. Ninety per centum of the people tested had all three of the mutant strands of Tay-Sachs Disease. The DNA-based trial proved to demo whether a individual carried the three of the mutants Tay-Sachs Disease better than the enzyme-based trial ( Triggs-Raine ) .


Tay-Sachs Disease is a familial upset that can non be corrected, at least non in this present clip. Although there are now ways for a individual to hold familial showing to see if they have Tay- Sachs or if they are a bearer of Tay-Sachs, they still have to populate with the possibility that they might go through on the familial upset to their kids. It possibly a one out of four opportunity that a twosome who both have the Tay-Sachs bearer cistron might hold a kid with Tay-Sachs, but that is a hazardous opportunity to do. Possibly with future engineering, scientist would be able to happen a manner to change by reversal the mutants of the Tay-Sachs Disease cistron.

Plants Cited Page

Primary Source

1. ) Triggs-Raine, B.L. & # 8220 ; Screening For Carriers of Tay-Sachs Disease Among Ashkenazi Jews: A Comparison of DNA-based and Enzyme-based Tests. & # 8221 ; The New England Journal of Medicine. 5 July 1990 v323 n1 pp6-12. ( Found through Internet hunt Tay-Sachs disease. In depth information on Tay-Sachs proving. )


2. ) Bradley, David. & # 8220 ; Weighing Up Tay-Sachs Disease. & # 8221 ; Analytical Chemistry. 1 July 1998 v70 n13 p443A. ( Found through Cleveland Public Library Infotrack. )

3. ) Eng, Christine MD. & # 8220 ; Prenatal Genetic Carrier Testing Using Triple Disease Screening. & # 8221 ; JAMA. 15 October 1997 v278 n15 pp 1268-1272. ( Found in Cleveland Public Library Infotrack. This article merely gave background but non in deepness inside informations on familial proving for Tay-Sachs Disease and Cystic Fibrosis. )

4. ) Motulsky, Arno G. & # 8220 ; Screening For Genetic Diseases ( Editorial ) . & # 8221 ; The New England Journal of Medicine. 1 May 1997 v336 n18 pp 1314-1317. ( Found through Cleveland Public Library Infotrack. Gave general information on cistron mutants. )

Internet Beginnings

5. ) www.webknx.com/LOTSF/p1.htm ( Found through Yahoo.com )

6. ) www.noah, cuny.edu/pregnancy/march_of_dimes/birth_defects/taysachs.htm ( Found through Yahoo.com )

7. ) www.ninds.nih.gov/healinfo/disorders/taysachs/taysachs.htm ( Found through Yahoo.com )

8. ) www.webknx.com/LOFTSF/ts.htm ( Found through Yahoo.com )

Other Beginnings

9. ) Campbell, Neil A. Biology. The Benjamin/Cummings Publishing Company Inc. California, 1996. ( Gave general information on Tay-Sachs, amniocentesis, and CVS. )

10. ) Acker, Bonnie and Lois Alix. The New Bodies, Ourselves. Touchstone Printing Company. New York, 1992. ( Gave general information on amniocentesis and CVS. Did non utilize in study because I felt that the information was excessively obscure and non in deepness. )

11. ) The Student Reference Library ( Computer Software. Information I found on the Cadmium Rom was an overview of Tay-Sachs disease. It merely gave a definition of what Tach-Sachs disease was and didn & # 8217 ; t plunge a full in depth account of what the disease does to the encephalon. )

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