Gene Typing Tay-Sachs
Tay-Sachs disease is an inherited metabolic disease of lysosomal lipid metabolism, and it is caused by the mutation of genes encoding the HEXB gene. It is a very severe genetic disorder which occurs in children in most cases and results in progressive destruction of the nervous system of the affected individual (Walker, 2007). The factors that cause the occurrence of the diseases is the absence of the hexosaminidase-A (HEX-A) enzyme that is very critical to have in the human genetic system. The lack of the HEX-A enzyme causes the accumulation of a fatty substance known as GM2 ganglioside in the body abnormally most likely in the brain nerve cells. As the build-up of the lipid material progresses, is when the damage to the cells increases in severity.
The destructive process of the diseases in children starts during the pregnancy period. The baby can look normal up to the age of six months when the development of the child begin to slow down and start having symptoms such as reduced mental function and occurrence of seizures. As the baby continues to grow regression continues and eventually causes the inability of the child in crawling, sitting or make any movement and blindness. By the age of approximately four years, the baby's nervous system is severely affected, and death can occur at any point in the period after.
Treating the Tay-Sachs diseases is very hard since it is a genetic disorder and thus require a lot of research on genetics and its related studies (Ballenir, 2006). No specific treatment for the disease has been discovered but what the doctors do is devising ways of managing the symptoms of the genetic disorder. However, several researchers have come up with the ideas of gene typing to treat or cure the menace of the genetic disorder that leads to Tay-Sachs disease (European Journal of Human Genetics, 2004, p. 87). The procedure entails the modification of the genetic system of and individual so that those who lack the HEX-A enzyme can be helped by fixing the missing genetic element in the system.
Gene typing, in this case, involves the development of highly sophisticated and technologically based techniques for typing of molecular immunology molecular that are significant genes in the breeding system (Dijkshoorn, Towner & Struelens, 2001). In our case, gene typing will use the techniques to correct the absence of the HEX-A enzyme in the genetic regime of an individual (Uitterlinden & Vijg, 1994). This will be done by successfully introducing the missing enzyme in the system through studying of gene status and artificially fixing the HEX-A enzyme.
As we have seen that Tay-Sachs disease results from the defects in gene on chromosome 15 that is responsible for coding production of the enzyme HEX-A, it is significant to sort out the defects in the gene chromosome 15. All people are having two copies of the gene, and if both HEX-A genes are active, the body produces enough of the enzyme that causes the accumulation of GN2 ganglioside fatty substance (International Conference on Tay-Sachs Disease et al., 2007). On the other hand, those who have only one copy of the gene appear to be healthy and are the carriers of the faulty diseases in which they can pass on the offspring in later days. The chances of passing on the disorder by the carrier parents is a fifty percent probability.
Gene typing is, therefore, a very significant treatment to the genetic disorder that causes Tay-Sachs as it serves to correct the absence of the gene that plays a major role in preventing accumulation of lipids (Kirkpatrick, 2007). The science of typing of genes is important in fixing the abnormalities that cannot be treated like in the case of the enzyme HEX-A that causes a genetic disorder when it goes missing in the genetic system of an individual.
References
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Dijkshoorn, L., Towner, K. J., & Struelens, M. (2001). New approaches for the generation and
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Kirkpatrick, A. (2007). Cytokine gene polymorphism analysis and HPV typing in low grade
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Walker, J. (2007). Tay-Sachs disease. New York: Rosen Pub. Group.
