Recombinant DNA Technology and the Treatment of Sickle Cell Anemia

The initial success of recombinant DNA technology in the insertion of genes in carrier bacteria such as E. coli was followed by similar researches on microbial, plant and animal genomes. Furthermore, the discovery of more precise and sensitive equipment and techniques in molecular genetic paved the way for the identification of genes, as well as their characterization. Applications of these findings enhanced the field of biotechnology and opened new avenues perceived to be impossible before, such as researches on human genes, animal genes and microbial genes. After the human genome project was done in 1996, all the data on human genome sequencing were made public. These hastened the process and by 2000, sequencing of 99 of the human genome has been accomplished. From 2000 to the present, microarray technology ha progressed as researchers investigate gene functions and interactions. Genome sequencing gave rise to proteomics or the study of all proteins produced in a particular cell. Recombinant DNA technology also progressed hand in hand with the completion of the human genome project as well as the advancement of technology. There are several thousand human diseases caused by gene mutation. In this case, research has been conducted to profile these mutation and diseases as well as create a knowledge base of DNA information which will be used today and in the future for further genetic screening of a wide range of diseases and also for gene replacement therapies.

Recombinant DNA technology is continuously being improved to treat different genetic diseases. One of the most known cases of application is for the treatment of Sickle Cell Anemia. Sickle Cell Anemia or SCA is basically a genetic disorder of the human blood. The disease it caused by the abnormal shaping of the red blood cells in the body. Normally, red blood cells would take the shape of a flat spherical cell with a concave portion in the middle. In the case of SCA patients, their red blood cells are elongated and sickle in shape. This abnormality is traced to the hemoglobin gene which is abnormally synthesized in the bone marrow of the person affected by the disease. The abnormality in the red blood cells is basically due to the replacement of a primary substance used in the formation of the cells. Normally, Glutamic acid is needed in the formation of these red blood cells however in SCA cases it is substituted by Valine. This substitution leads to the formation of sickle cells. Generally, the substitution is termed as a point mutation in genetics which is initially a non-lethal mutation however it is observed that due to the complication brought about by SCA an individual suffering from the disease might die of complications in an early age (Weaver 2000). The sickle cell formation leads to anemia and this may lead to complications such as stroke, jaundice, and many other diseases.

There is no full proof cure to sickle cell anemia. However there is a wide variety of treatments that can further improve the management of the disease. Treatments such as bone marrow transplants are done order to erase the presence of sickle cells and replace it with a healthy bone marrow which produces normal red blood cells. Another treatment would be the intake of maintenance medicines that basically affect the level and status of the hemoglobin in the red blood cells. These medicines also affect improve the amount of oxygen carried in the red blood cells which aid in managing the SCA disease.

One of the known treatments to Sickle Cell Anemia would be the Recombinant DNA Technology. Initially, it is evident that sickle cell anemia is due to a genetic mutation which caused the bone marrow to produce abnormal red blood cells. This situation is the specific target of recombinant DNA technology. In simpler terms, recombinant DNA technology can treat SCA by intervening with its cellular integrity and supplying it with the missing substance (Glutamic acid) that the body needs in order to produce normal red blood cells (Sarin 1995). This is achieved through the creation of a genetically engineered cell which undergoes cloning in order to increase its number. Afterwards, the group of cloned cells is introduced into the body and they immediately bind with the host cells and introduce their content to cell and multiply. The advantage of these techniques is that it directly works with the genetic deficiency disorder and provides what the body is lacking (Glutamic acid in the case of SCA). The speed of the reaction is much faster and sustained. Similarly, ideas and concepts of human cloning have also been brought about by the number researches done. It has been discussed that human cloning can resolve genetic issues by providing a normal base resource for all the body needs. In the case of the Recombinant DNA technology, the disadvantage of this technique in treating SCA is that there is still a large room for error and research. Experiments are yet to be done regarding the effect of an artificially introduced substance to intervene with the cellular production of red blood cells. Furthermore, since Recombinant DNA technology is still new to the world of science, complications are unavoidable and there have been documented situation that the use of gene replacement therapies through genetic engineering led to the death of the individual affected.

The DNA cloning process for recombinant DNA technology is the most important part in achieving the goal of replacing a mutated gene with the right substance. Initially, the technology of DNA cleavage and degradation will be used. DNA fragments will be cut into portions and enzymes such as DNA ligase will be used to pair the ends to the cut portions.  The DNA fragments contain the information or substance that is needed in order to cure an abnormal cell. The insertion of a piece of DNA from a foreign source is made possible by the action of the same enzyme ligase. The mode of action starts with the DNA ligase catalyzing the formation of the phosphodiester bond at single strand interruption in duplex DNA. Ligase therefore, connects the DNAs from different source to form the biologically active chimeric DNA r DNA clones. The foreign DNA can now be introduced to a cleaved vector or carrier which will be responsible of carrying and transmitting the fragment. The cloned DNA can now be introduced to the host cell. This genetic work is done using E. coli as the host cell but many other host cells are now used such as yeast, Drosophila and other plants and animals. The process of detecting the recipient cells is simple. These cells will show the characteristics determined by the introduced gene. As soon as the recipient cells are identified, it becomes a simple process of increasing bacterial culture.

In conclusion, the process of treating Sickle Cell Anemia in the future relies on the advancement and perfection of current Recombinant DNA Technology. It is indeed the future of medicine that genetic treatment will be utilized as a primary procedure.

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