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Genetic Mutation


Question: Write a paper on a topic of interest that is relevant to biology.

Answer: Introduction: Genetic mutation is defined as the permanent alteration in the DNA structure which constitutes the gene of a living organism (Kannan, Hertweck, Philley, Wells, & Dasgupta, 2017). With this mutation, the changed gene sequence becomes slightly different from the existing sequence and is termed as alleles. These minute differences in DNA sequence defines the uniqueness of each individual. The size of a mutation usually ranges from one nucleotide to a large part of a chromosome consisting of numerous genes. There are various types of mutations, such as going to mutation, insertion mutation, and deletion mutation. The point mutation is found when a single nucleotide is substituted by another nucleotide, whereas the insertion mutation occurs when an additional piece of DNA is attached to the existing chromosome. While the deletion mutation is observed when a part of the existing DNA sequence is missing from the genome. It has been found that mutations are favorable as unfavorable for human beings, in which the unfavorable mutations are responsible for approximately 6000 types of deadly diseases (Woodfin, Madrigrano, Skladman, & Antony, 2019). The present report is based on the topic of genetic mutation, where its associated causes, types and impact have been discussed.

Types of mutations: There are basically two types of gene mutations, (i) hereditary mutation, and (ii) acquired mutation (Lill, Mashychev, Hartmann, Lohmann, and Marras, 2016). The mutations which are transferred from the parents to their offspring is termed as hereditary mutation. These are also known as germline mutations, due to the presence of a parent's sperm cell or egg. This kind of mutation is generally present virtually in the entire cell cycle of the individual. When the sperm cell and egg get united, then the resulting fertilized egg cell gets DNA from both parents. If this DNA gets mutated, then the offspring from the fertilized egg will also receive mutation in each of its cells. On the other hand, if the mutation occurs during a phase of a person's life, then it is termed as acquired or somatic mutations (Sebastiano, Maeder, Angstman, Haddad, and Khayter, 2011). This kind of mutation is present in certain cells, rather than existing in the entire body cell as hereditary mutation. There are various reasons for acquired mutations such as environmental factors (continuous contact with ultraviolet radiation from the sun), or chemical mishandling resulting in cell division and multiple DNA copies. This mutation present in somatic cells cannot be transferred to the next generation.


Causes of mutation: There are several factors that result in mutations of gene, and causing diseases. First, in some cases, the DNA might fail to copy which ultimately result in mutation. The majority of the mutations which are perceived to be important for evolution are actually "naturally occurring" (Park, Lee, Ryu, Kim, and Bae, 2018). For instance, when a cell splits, it creates a copy of the DNA which is sometimes copied inaccurately. This small difference in duplicating the original DNA sequence finally result in mutation. Second, mutation can also occur under the exposure to external factors such as radiation or chemicals or viruses. This external agent forces the DNA to split down into pieces. This is usually an unnatural process, however, it can also occur in a pristine and isolated environment as well. Further, when the cell repairs the DNA, there exists some fault. Thus, the resulting cell ends up with a difference in the DNA sequence than the original one, forming a mutation (Yoshizato, Nannya, Atsuta, Shiozawa, and Iijima-Yamashita, 2017).

Effect of mutation: The DNA of a living organism is constantly subjected to mutation which can further lead to malformed proteins and causing a number of diseases. Most human beings possess some form of mutation, which is either inherited or acquired. Some mutations are beneficial to health, while some are harmful. Over a few periods of time, a genetic mutation leads to genetic diversity which helps in keeping the population healthy. These types of genetic mutations are known as silent mutations. However, the mutations which are known among the people are those which cause diseases. Some of the commonly known genetic disorders which are genetically inherited are sickle cell anemia, cystic fibrosis, Tay-Sachs disease, color blindness, and phenylketonuria (Mandel, Cachia, Liu, Wilson, and Aldape, 2016). All of these diseases are the result of a mutation in a single gene cell. The majority of the inherited diseases are found to be recessive, which means that it is necessary to inherit at least two copies of the mutated gene for inheriting a particular disorder. For this reason, the marriage between two individuals having close blood relations is discouraged. This is because their children have a higher probability of getting to copies of defective genes from two genetically similar adults. There is also a possibility of disease from a single copy of the defective gene, like Huntington's disease, which is found rare. Due to the natural selection process, the existence of these dominant genetic diseases gets removed overtime before passing to the next generation. It is because the afflicted carriers of these diseases mostly die at a young age before reproducing. According to a recent research report, it has been inferred that each one of the human beings is identified with 5 to 10 potentially deadly mutations present in the blood (Park et al, 2018). Due to the presence of only one copy of this bad gene, the mutation could not occur which ultimately restricts the occurrence of disease. Even cancer is the result of a mutation in a single cell. Scientists have discovered that p53 is either faulty or missing or damaged which causes cancer in the body. P53 gene formulates a protein which helps in restricting the division of mutated cells (Yoshizato et al, 2017). However, in the absence of this protein, the cell division takes place uncontrollably and finally forms tumors. In addition to this, a point mutation can lead to sickle cell anemia, which is a genetic disease found especially among African descent. A point mutation is basically an alteration in a single nucleotide of hemoglobin. Thus, the hemoglobin present in the red blood cells distorts into sickle-shaped blood cells, which eventually gets clogged in the arteries and restricts circulation.


Conclusion: In summary, the present report has outlined a brief detail about genetic mutation. In this context, the discussion is primarily based on the types, causes, and effects of mutation. DNA is a critical and delicate molecule which is needed to be protected from being mutated for the betterment of mankind. It is necessary for scientists and healthcare researchers to identify mutagens which are responsible to create mutation so that people can be saved from harmful and serious diseases. In this context, some preventive measures should also be taken in our daily lives to minimize the risk factors. People should avoid exposure to sunlight and use sunscreen whenever go outside. Direct exposure to chemicals should be avoided by wearing protective gear and these chemicals should be disposed of properly. Additionally, tobacco consumption should be minimized. Apart from preventive measures, there are certain curable strategies such as gene therapy which have successfully treated some of the genetic disorder. Similarly, the use of chlorophyllin has shown been proved to successfully protect the genes from an array of cancers. Thus, failure in protecting the genes from harmful mutations that retain in the cells for a lifetime will finally cause fatal diseases and reduce longevity.


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