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TAY SACHS DISEASE

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TAY-SACHS DISEASE
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Introduction
Tay-Sachs disease is a disorder that damages the nerve cells that are responsible for the brain function. It is a genetic disorder and is responsible for most of the spinal cord diseases. The most common types of Tay-Sachs diseases include the infantile Tay-Sachs disease that becomes known after six months (Karacan et al., 413). This affects a child who displays the inability to turn over or crawl. The child cannot sit in many cases. A seizure and loss of hearing follow the symptoms. The child loses his or her ability to move.
History of the Disorder
The history of this disease comes from the two physicians, Waren Tay and his fellow physician Benard Sachs. The two of them described the progression of this disease and gave various criteria that could be used to differentiate it from the other disorders that had the same symptoms. The first cases where these symptoms were discovered were in the Jewish families. The observation that was made by Tay was done in the year 1881 (McPartland, 2015, 44). After four years, the same findings were made by Benard Sachs. He described his case as the “arrested development of cerebral.” It is these symptoms that the scientists described these symptoms after discovering that they had a genetic background.
Chromosomal and Other Genetic Abnormality
Tay-Sachs disease is described as an autosomal genetic disorder.

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This means that if the two parents are careers, they are 25 % more likely to give birth to a child who has the disease (Kato et al., 2017, 9297). Also, the child will also have a gene copy from the parents that are more mutated. The disease comes from the mutation that takes place in the HEXA gene located inside the chromosome 15. The mutation encodes the subunit of alpha and beta acetylhexosaminidase. There are more than one hundred different mutations that had been identified in the HEXA genes by the year 200 (Sheth et al.., 2018, 109). The different gene mutations include; insertion, deletion and splice phase mutation. There are other complex patterns in the chromosomes such as missense mutation (Dersh, Iwamoto, and Argon, 2016, 3813).
Condition Displayed by the Affected Individual
An individual affected by Tay-Sachs disease displays its symptoms at a younger age. The children of six years display abnormalities and are slow while responding to sudden noise or any other stimuli. This is known as the startle response. They also lose their ability to crawl and sit. Children with this disease eventually lose their mobility. The other characteristic is the loss of hearing. It is less common than the conditions can affect an adult.
Famous Individuals (if any) who have Suffered from the Disease
Tay-Sachs disease is a fatal disease that kills young children. Therefore, most people do not get the time to become famous. The maximum number of years that the infected people can live is fifteen years. Also, many people are not aware of the disease in many parts of the world (Hussein et al., 2018, 24). This makes it difficult to tell of the affected individuals.
Description of Limitations to Lifestyle
The children who suffer from Tay-Sachs diseases are limited in many ways in their lifestyle. From the young age, they cannot sit like the other children. Their development is impaired as they go through different conditions. Also, they cannot move like the other children of similar age. They have to be turned by their parents as they are immobile.
Life Expectancy
Those suffering from Tay-Sachs live up to the age of four years (Gray-Edwards et al., 2017, 58)
The Occurrence of the Disorder
The disease occurs when a child inherits the disorder from the parents that starts to destroy his or her brain together with the nerve cells. This takes place in the infants.
Is It Age, Race or Gender-Related?
Tai Sachs is mainly displayed in the infants. There are cases that the infants can appear normal up to the age of three to six months. From the time, the development starts to stagnate. Also, it does not depend on the gender. It affects both genders as it is in the HEXA genes (Gray-Edwards et al., 2017, 58). However, Tay-Sachs is an ethnically related disease as it affects Ashkenazi people the most. These include people from (eastern and central Europe as well as the Jewish and French).

Reference List
Dersh, D., Iwamoto, Y. and Argon, Y., 2016. Tay–Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. Molecular biology of the cell, 27(24), pp.3813-3827.
Gray-Edwards, H.L., Ellis, L., Jiang, X., Randle, A., Hudson, J., Ory, D., Sena-Esteves, M. and Martin, D., 2017. Long-term survival of sheep with Tay-Sachs disease after intracranial delivery of a novel bicistronic AAV gene therapy vector. Molecular Genetics and Metabolism, 120(1), p.S58.
Hussein, N., Weng, S.F., Kai, J., Kleijnen, J. and Qureshi, N., 2018. Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis, and Tay‐Sachs disease. Cochrane Database of Systematic Reviews, (3).
Karacan, I., Schneck, L., Hinterbuchner, L. And Gross, K., 2017, January. Tay-Sachs Disease. In Inborn Disorders of Sphingolipid Metabolism: Proceedings of the Third International Symposium on the Cerebral Sphingolipidoses (p. 413). Elsevier.
Kato, A., Nakagome, I., Nakagawa, S., Kinami, K., Adachi, I., Jenkinson, S.F., Désiré, J., Blériot, Y., Nash, R.J., Fleet, G.W. and Hirono, S., 2017. In silico analyses of essential interactions of iminosugars with the Hex an active site and evaluation of their pharmacological chaperone effects for Tay–Sachs disease. Organic & bimolecular chemistry, 15(44), pp. 9297-9304.
McPartland, R., 2015. Tay – Sachs disease. Cavendish Square Publishing, LLC.
Sheth, J., Mistri, M., Mahadevan, L., Mehta, S., Solanki, D., Kamate, M. and Sheth, F., 2018. Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India. BMC medical genetics, 19(1), p.109.

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