Progressive external ophthalmoplegia, or PEO, is a disease defined by the buildup of large deletions in mitochondrial DNA (Loeb & Monnat, 2008). This disease is a muscle disorder, where its symptoms are mostly related to eye muscle weakness. Ptosis, or drooping of the eyelids, is the most common sign and symptom of PEO. Ptosis can occur in one or both eyelids with paralysis and/or weakness of the muscles that allow the eye to move. Additionally, people who are affected by this disorder can have trouble with skeletal muscles, or myopathy, particularly with trouble in the arms, legs and neck (NIH, 2011).
The disease PEO was originally connected to the POLG gene by reports from different autopsies. Moreover, more exams and testing was conducted with results that showed how mitochondrial DNA polymerase had all the Y955C mutation in common. This mutation was only found in people who ha...
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...netic alterations responsible for the PEO mutation. A closer study of these muscle cells can help determine the abnormalities in the type of DNA that is resulted from the mitochondrial DNA trait. Another way is by using gene therapy with individuals for treatment to see if the injection of the DNA into the cell will have the resulted goal of changing the genome (NIH, 2011).
In conclusion, progressive external ophthalmoplegia is due to the genetic mutation from the gene POLG. The POLG mutations account for a portion of individuals with PEO and multiple mitochondrial DNA deletions. Moreover, the Y955C is specifically related to the POLG gene, which has been linked to the effect of DNA polymerase gamma in mitochondria. This mutation can also affect exonuclease, which is part of the pol gamma that creates the process of repairing newly synthesized DNA (NIH, 2011).
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