Description and Importance of Enzyme Mutation

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In the human body the cells can reveal a wealth of genetic information, leading to diagnosis and answers to some clinical manifestations. DNA is a nucleic acid that is the part of a cell and contains molecules that store important information. A persons DNA is unique to them and determines things like how a person looks, hair, and eye color. DNA also contains genes, and is wound up into chromosomes, cells have to copy their DNA in order to reproduce. The enzyme hilcase unwinds the two strands of DNA and little proteins attach to each side to keep them separated. From there another part of DNA called polymerase, attaches new nucleotides to match the existing one. After the new nucleotides are added, then they are recheck by the polymerase to make sure that they are right. Lastly, the DNA ligase enzyme completes and creates the continuous strand of DNA. This process is so delicate and has many chances to go wrong . One alteration in the process or with the enzymes can create a variety of disorders in humans .

The disease Alper- Huttenlocher syndrome is a POLG gene related disorder. The POLG gene provides instructions for making the alpha subunits of the protein polymerase gamma. It also codes for the catalytic subunits of the mitochondrial DNA polymerase (Genetic Home Reference : Your Guide to Understanding Genetic Conditions, 2014). Alpers disease is a DNA polymerase (this is needed for POLG function) related disorder and it is caused by a mutation in the DNA polymerase, it is a biochemical defect. DNA polymerase is an enzyme that reads sequences of DNA. It is also responsible for coping and replicating cells genetic contents. Along with reading and replicating DNA polymerse also plays an important part in DNA repair. Th...

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...rrier parents (Nichols, 2013). However, this has not been approved and is very controversial approach, but this type of technology can lead to the understanding, prevention, or cure of the disease known as Alpers-Huttenlocher syndrome.

Reference Page

Euro, L. F. (2011, July 14). Nucleic Acids Research. Retrieved from Oxford University Press :

Genetic Home Reference : Your Guide to Understanding Genetic Conditions. (2014, Feburary 3). Retrieved from Alpers-Huttenlocher Syndrome:

Nichols, A. (2013, October 16). A Throw away Culture in Reporductive Medicine. Retrieved from Crisis Magazine: -reproductive-medicine

Pierce, b. (2010). Genetic Essentials: Concepts and Connections. . New York: W.H Freeman and Company.
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