Defining DNA Ligase IV Syndrome There are several enzymes that are essential in DNA replication and repair. Yet the human body can at times malfunction causing a disease related to the mutation of the enzyme. One such enzyme is ligase. As stated in the text, Genetic Essentials by Pierce, in ideal circumstances ligase is the “enzyme that catalyzes the formation of a phosphodiester bond between adjacent 3’-OH and 5 -phosphate groups in a DNA molecule” (2013, p. A4). Yet if this does not occur, a person could be diagnosed with Ligase IV Syndrome or LIG4 syndrome. Ligase IV Syndrome occurs when DNA response mechanisms are impaired. What this enzyme essentially does, from the research conducted, is that the ligase repairs, specifically
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It is continually correcting any broken DNA bonds and making them functional within our systems. Therefore, if this is enzyme is lacking, DNA repair will not be occurring efficiently. Furthermore, during transcription and translation if there are broken bonds and inefficient amounts of ligase to correct the problem deficiency can and will occur. In DNA Ligase IV Syndrome the individual lacks sufficient ligase which does not allow for the proper formation of the DNA strands, thus leading to an abundance of medical issues. For DNA repair and replication to preform normally we need a sufficient amount of DNA ligase. If the ligase is not present and sufficient in conjunction with Xrcc4 to repair, many negative physical, mental and developmental outcomes can occur. As stated earlier the patient can have microcephaly, developmental delays, etc., in addition there has been a case of a radiosensitive leukemia patient as noted in the article DNA double-strand break repair and development (2007). Unfortunately research has indicated that a person with Ligase IV Syndrome is at increased risk for cancer, as noted in the above …show more content…
Stem cell transplantation has been used, yet the long-term outcome is unknown. Although this is not considered genetic engineering it appears to be the closest mechanism used for this syndrome. Ideally, because this is a hereditary disease, laboratory research can be conducted and genetic engineering could be used to learn more about probability of gene mutation with a family. Secondly once a child is diagnosed with this syndrome, ideally genetic engineering would be implemented to infuse functioning ligase into the cells and determine what the long-term effects could be. As stated earlier, the problem is with chromosome 13q22-q24. Therefore, could a scientist manipulate this gene through engineering and ultimately alter its make-up? Would this improve the outcome for this patient? Finally can very early gene mutation detection in utero be conducted and if chromosome 13q22-q24 appeared abnormal, could there be treatment before birth? Unfortunately the list of questions seems to largely out weigh the answers in regards to DNA Ligase IV Syndrome. Also, when a disease is so rare, I do not feel that science has the time or resources to necessarily dedicate to finding a cure. Therefore, it may be quite a while before society learns more about DNA Ligase IV, testing, and treatments which will successfully end this
It is continually correcting any broken DNA bonds and making them functional within our systems. Therefore, if this is enzyme is lacking, DNA repair will not be occurring efficiently. Furthermore, during transcription and translation if there are broken bonds and inefficient amounts of ligase to correct the problem deficiency can and will occur. In DNA Ligase IV Syndrome the individual lacks sufficient ligase which does not allow for the proper formation of the DNA strands, thus leading to an abundance of medical issues. For DNA repair and replication to preform normally we need a sufficient amount of DNA ligase. If the ligase is not present and sufficient in conjunction with Xrcc4 to repair, many negative physical, mental and developmental outcomes can occur. As stated earlier the patient can have microcephaly, developmental delays, etc., in addition there has been a case of a radiosensitive leukemia patient as noted in the article DNA double-strand break repair and development (2007). Unfortunately research has indicated that a person with Ligase IV Syndrome is at increased risk for cancer, as noted in the above …show more content…
Stem cell transplantation has been used, yet the long-term outcome is unknown. Although this is not considered genetic engineering it appears to be the closest mechanism used for this syndrome. Ideally, because this is a hereditary disease, laboratory research can be conducted and genetic engineering could be used to learn more about probability of gene mutation with a family. Secondly once a child is diagnosed with this syndrome, ideally genetic engineering would be implemented to infuse functioning ligase into the cells and determine what the long-term effects could be. As stated earlier, the problem is with chromosome 13q22-q24. Therefore, could a scientist manipulate this gene through engineering and ultimately alter its make-up? Would this improve the outcome for this patient? Finally can very early gene mutation detection in utero be conducted and if chromosome 13q22-q24 appeared abnormal, could there be treatment before birth? Unfortunately the list of questions seems to largely out weigh the answers in regards to DNA Ligase IV Syndrome. Also, when a disease is so rare, I do not feel that science has the time or resources to necessarily dedicate to finding a cure. Therefore, it may be quite a while before society learns more about DNA Ligase IV, testing, and treatments which will successfully end this