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Effects of Gene Mutation

What are the effects of gene mutation and its future in humanity?

Mutations are visible changes in chromosomes as well as genes. The process of mutation can happen within the cell or be transmitted from one cell to another in a multicellular organism. Rates of mutation differ from one organism to another, from one place to another, time to time and from one gene to another. DNA genes are frequently changing; mutation can be seen as accidental changes that leads to malformed proteins hence disease. Our lives begin with mutations inherited from the parents. The inherited gene mutation is germ-line mutations. Some mutations can be harmful while some beneficial. With time, genetic mutation brings about diversity which in turn sustains populations healthy. There are also silent mutations which have no effects (Adeniran, 2014).

Presence of DNA in our body cells provides a place for mutation to take place. But r, some of these transformations can fail to be transmitted to the offspring and fail to be considered for evolution. This condition is described as somatic mutation. Many times mutation is seen as insignificant cause of genetic ailment. As they display undesirable effects, contrary to many expectations, some mutations can have positive effects (U E, n.d).

A number of organisms have strong regulating genes that assist in determining how the body is laid off. A case in point is Hox genes which are common among animals that designate the direction of the head at the same time determining the place for appendages. To this extend therefore the transformation in primary body layout may not be avoided; instead it may need transformation in Hox gene and promote the natural selection (U E, n.d).

What remain common in most of the people are the harmful mutations that cause diseases. Cystic fibrosis and sickle cell anemia among other genes are examples of inherited gene disorders. These inherited genetic diseases in most cases are recessive and they exist in pairs (Adeniran, 2014).

Scientists approximate that a very human being has about 5-10 prospective deadly mutations. In most cases cancer is the resultant of these series mutations in a cell. In most cases this problem is as a result of p53 gene that brings the mutated cells to a standstill (Adeniran, 2014).

Categorization of Gene Mutations

A gene mutation is an eternal change in DNA arrangement making up a gene. This arrangement varies from majority of persons, ranging from DNA building block and gene size. Mutation of genes can be categorized into two: First is the hereditary mutation which is inheritable from the parent of child. Germ line mutations are responsible for these hereditary mutations, because of their presence in the parent sperm or egg cells (Harten, 1998).

Second is Acquired mutations which occurs specifically at some point in one’s life time and are contained in some cells but not all cell of the body. This category is predominantly caused by the environmental aspects like sun rays, or a mistake occurs during DNA cell division. This category of mutation cannot be passed on to another generation (Harten, 1998).

Besides acquired and hereditary mutations, other mutations exist. Some of them are de novo and somatic mutation. In rare occasions mutation occurs in an individuals’ sperm or egg cell, also alteration can occur in the fertilized ovum. In the case of de novo mutation is not easy to tell. De novo mutations can be used to explain the genetic disorders (GHR, 2015).

Somatic happen in a single cell embryonic development. But this can lead to a condition of mosaicism. In most cases this condition is not present in the parent’s sperm or egg but happen later when the embryo has developed several cells. As these cell continue to divide as they grow some specific cells with deformed gene undergoes mutation, while other genes in the same cell fails to undergo mutation (GHR, 2015).

Many diseases causing gene mutations remain unknown by the public. One of these reasons is that genetic changes happen unknowingly and their frequency is not detected easily. The second reason is polymorphisms which is insignificant among the population. For example, this condition happens in less than 1 percent in all population. The aspect of polymorphisms is the one responsible for human uniqueness among people. The delineate difference include, bloody type, eye color and hair type. Despite being vital functions, polymorphisms can influence the risk in developing some disorders (Bailey, 2015).

All through life process, Charles Darwin in his popular discoveries on how mutation resulted in new creatures in animals. Beneficial mutational provides detailed explanations on how one species progresses to another (Knott, 2015).

Within cells in our bodies there is DNA molecules which are twisted in twenty three pairs of chromosomes adopted from the mother and another adopted from the father. If these chromosomes can appear four times to represent four chemical compounds. The DNA series becomes read by the biological machinery in one’s cells. These cells make an individual unique and a specific creature. Genes are specific DNA parts or regions and are responsible in differentiating human beings distinctively. Unique versions of these genes in individuals are termed “alleles” which comes from the mother at the same time from the father of the offspring. Since 1 to 2 percent of one’s total DNA composition is made of genes, any human being is about 1 percent unique from another (Knott, 2015).

The differences a rise through tiny biological machines that duplicate one’s DNA, as they are not perfect some errors occurs during the process of DNA copying because of geographical factors or damage thus “mutations”. Some of these conditions with DNA mutations are muscular dystrophy, Parkinson’s disease, cystic fibrosis and color blindness. The alteration process within a single gene on four chromosomes causes Huntington disease (Knott, 2015).

Mutations in terms of structure and information

Other than categorizing of mutation as either hereditary or acquired, they can be also be classified in terms of genetic information they generate. Point mutation is an example of genetic information which affects single nucleotide. Since the amino acids in protein are composed of DNA, therefore DNA mutations can lead to protein alteration (Bailey, 2015).

Causes of mutation

Because genes are contained in DNA, therefore anything that can alter its physical integrity, composition structure and DNA molecule length can bring about mutations. Exposure to high radiation rays such as gamma, alpha and beta rays can facilitate radiation. Mutagens that affects DNA are different from teratogens influence an individual’s embryological development. Also, spontaneous mutations can be seen in DNA due to faulty proof reading. Bacterial research of DNA polymerases have proven that a large number of varying mutation rates happen in diverse systems.

Importance of gene mutation to humanity

Many people view mutations on a negative light, but other mutations on humans can be beneficial. One of these importance is lactose intolerance. Many scientists relate the gene of lactose tolerance as the recent mutation that is common among the Europeans with cattle –rising populations. It can be seen that without this mutation the ability to process milk of animals like goats, cow, and camels within the age of 4-5 would have been difficult. Therefore the ability to synthesize lactose assist to prevent illness like osteoporosis that improves bone and muscle health, at the same time extends the lives of milk drinkers longer and healthier(Knott, 2015).

Sickle Cell

Sickle cell anemia is another well intentioned mutation but with problematic outcome. Individuals with mutant gene “HbS”the red blood cell usually curves, thus trouble carrying oxygen within one’s tissues, which may catch another and clog on the arteries that would result to serious anemia. The advantage of this condition is that there is one copy of the gene, with normal shape of the red blood cells which at the end prevents anemia. The actual benefit in this case is that the sickled cells are strong resistant to malaria parasite (Bailey, 2015).

The Role of Hemoglobin

Hemoglobin, a component of blood, is a globular protein structure transports oxygen in the body. Sickle hemoglobin varies structurally in shape from the usual hemoglobin, with a curved sickle-shaped instead of a flat-disc shaped cells. This has an effect on the shape of cells therefore causing the cells to be more rigid and less flexible. As a result of this, the cells are more likely to hemolysis and cause blockages in the blood vessels that disrupt the flow of blood.

The sickle cells are found in the individuals suffering from anemia. Anemia is a genetic disease that is preference among the people with African origin. Anemia is due to point mutation, which is usually an altering of one nucleotide in gene for hemoglobin. This alteration makes the hemoglobin in red blood cells to disfigure into sickle like shape especially when deoxygenated. The affected blood cells congest in the capillaries thus preventing the blood circulation. The presence of two copies of mutated genes generates sickle cell anemia (Harten, 1998).

Figure 1, shows the bloood cell, the fig, was obtained from( The T M I, 2013).

A B

Sickle-shaped red blood cell

Blood cell

This means that “heterozygous “people suffering from this condition if infected by malaria the sickle cell will keep them alive till the red blood cells are replaced. Even though, this situation may not work for the patients with double copies of the gene. As a benefit it would be highly embraced in the regional populations with malaria infections. The mutated hemoglobin gene “HbC” in an individual makes him 29 percent less likely to contradict malaria but with two copies renders him 93 percent less likely (Knott, 2015).

Another benefit of mutation is the “CCR5 Δ32 mutation.” in this case certain protein settles on the surface of the cell. This means that the individual with a copy of this gene becomes resistant to AIDS, while individuals with duo copies are completely immune from the HIV. Also the mutated gene makes individuals resistant to smallpox as well as plague (Knott, 2015)

Feedback mechanism

Due to the effects of the sickle celled hemoglobin, the body has way of counteracting the oxygen deficiencies associated with the defective hemoglobin. This involves erythropoiesis, the process of synthesizing erythrocytes. The kidney is usually involved in the detection of oxygen levels in the blood circulation. When the oxygen levels are low, the kidney itself secretes the hormone erythropoietin which circulates in the body after being released by the kidney. It then detected by receptors in the bone marrow and as such stimulates erythropoiesis. The newly synthesized erythrocytes are released into the blood stream with a general impact of increasing oxygen concentration in the body. Ensuring that the size of the erythrocyte population remains relatively constant and that the oxygen carrying capacity of the blood is always sufficient to meet the needs of the body.

Conclusion

In conclusion as far as mutations is regarded hazardous, if viewed from different dimension it can be converted to fruitful use and help to solve the challenges facing humanity. Economic importance of mutation is embraced across the mutant organisms, the climatic stresses such as extreme temperature, water shortage quick reproduction in case of the wild organisms. Through mutation man can adapt to this hazardous and dynamic environment.

References

Adeniran I. (2014).Modelling the short QT syndrome gene Mutations: and their role in Cardiac Arrhythmogenesis. Springer. New York .USA.

Bailey R. (2015). Gene Mutation. Retrieved from URL: http://learn.genetics.utah.edu/content/variation/mutation

Genetics Home Reference (2015). What is a gene mutation and how does mutation occur? Retrieved from URL: http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/genemutation

Harten Van.A.M (1998).Mutation Breeding: Theory and Practical Application. Cambridge University Press. UK.

Kim, W. Y., & Kaelin, W. G. (2004). Role of VHL Gene Mutation in Human Cancer. Journal of Clinical Oncology, 22(24), 4991-5004

Knott E. (2015). Examples of Beneficial Mutations in Humans. Retrieved from URL: http://ratiochristi.org/uah/blog/post/examples-of-beneficial-mutations-in-humans/2011

Moore J., Turner K., Cuthbert H. D., Taylor C., Jones A., Harris, A.L., & Han C. (2002). Expression of hypoxia-inducible factors in human renal cancer relationship to angiogenesis and to the von Hippel-Lindau gene mutation. Cancer Research, 62(10), 2958-2960.

Mastroianni L., & Paulsen A., (2012).Aging, Reproduction, and the Climacteric. Springer Science and Business Media. New York. USA.

The Tech Museum Innovation (2013). Mutation and Disease. Retrieved from URL: http://genetics.thetech.org/about-genetics/mutations-and-disease