For many years, physicians and medical practitioners have been doing studies on whether the functions of genes can be altered and trying to have a concrete definition of the term epigenetics. Today, the treatment of many illnesses such as cardiovascular and respiratory dysfunctions can be linked to epigenetics. These physicians and medical practitioners have made groundbreaking discoveries on epigenetics and how this can lead to personalization of medicine especially in a few years to come. Furthermore, they have sparked interest in trying to understand mechanisms behind genetics (McEwen, 2017). This paper will explain the term epigenetics and how and why this is the future of medicine.
Epigenetics, in simple terms, refers to the biological mechanisms in charge of switching genes off and on. It entails any process that alters the activities of genes without necessarily changing the DNA sequence of an organism. The following analogy can be used to understand the functioning of epigenetics. Let us consider the human life to be a movie. The cells would be the cast and a very important aspect in the movie. The DNA would be the movie script performed by the cast. The words that give instructions on how the sequence of events will occur are the genes and screenwriting would be the genetics. Epigenetics would, therefore, be the director. Even with the same script, the director can choose to add on or remove some scenes to make the movie better or worse. Epigenetics is unique in that each organism has a different director managing all the genetic actions. Epigenetics occurs natural but in some instances, it can be influenced by certain factors such as lifestyle age and disease (McEwen, 2017).
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There are certain key points to note in the functioning of epigenetics. First, epigenetics is in charge of controlling genes meaning that given a particular scenario in life, genes can either be expressed (turned on), or silenced, (turned off) over time. Secondly, epigenetics is found everywhere. Epigenetics can be traced in whatever people take in, who they interact with, where they live, age, diseases, and their exercise habits. These external factors influence the turning on and off of genes. Thirdly, epigenetics is responsible for our uniqueness. Although we are all human beings, different people have different likes and tastes, owing to epigenetics. Lastly, epigenetics can be reversed. When genes are being turned on and off, a wide array of combinations exists and it may be difficult to single out one combination. However, if one single combination could be reached at, reversing would be made possible. Therefore, people would have control of maintaining the good genes and discarding the bad. According to McEwen (2017), this would mean that scientists would have a theoretical cure for cancer, obesity and the ability to slow down the aging process.
There are a number of processes involved in epigenetics. Currently, DNA methylation has been the easiest process to study, owing to the advancements in technology. DNA methylation was first observed in cancer disease and has evolved to be traced in other illnesses since then. Kanherkar, Bhatia-Dey, & Csoka, (2014) explain DNA methylation as a process involving adding and removing methyl group in areas where cytosine has been occurring consecutively. There is also Chromatin modification which is a complex consisting of DNA ns proteins tightly bundled into a nucleus. The modification process influences how genes are expressed. The tight complex is often turned off while more open chromatins are left to be active. The effects of these processes, DNA methylation, and chromatin modification is imprinting. Imprinting refers to the condition of altering gene expression especially by turning them off. The silenced genes can cause problems as they might increase an organism’s vulnerability or become damaged.
The field of epigenetics is evolving rapidly. As of today, researchers have now linked genetic mechanisms to individuals’ lifestyles and the environmental landscape and result in epigenetic changes. McEwen (2017) points out that a reflection of these changes is viewed throughout a person’s life, from infancy to old age. For instance, during pre-natal and post-natal care, some exposures can lead to chronic disorders of a person at adulthood. Take an example of the children who were born during the Dutch famine of the period 1944-1945. These children had higher risks of suffering from obesity and other chronic heart diseases as their mothers were exposed to famine. Another example is when a mother is constantly exposed to pollution, her child can be at risk of getting asthma. However, intake of Vitamin D can cause DNA methylation resulting to a reverse of the condition. A person’s diet has also been seen to effect modifications of epigenetics significantly. Some foods can protect against cancer or suppress tumors.
Narrowing down to clinical application, the most extensive studies of epigenetics have been conducted on cancer and the findings have been compelling. In trying to contain the spread of cancer, the epigenetic process has become one of the most important considerations among other five (Kanherkar, et al 2014). Other health issues that have drawn the attention of epigenetic modification include lupus. A research conducted at the Wake Forest University, School of Medicine shows that a drug known as trichostatin A could reverse the symptoms. Other physicists have also revealed that procainamide, a heart drug, can also be used in DNA methylation to reverse the symptoms of lupus both in their mice experiments and in human beings. These are some of the medical advances that have been linked to epigenetics in recent years, which is from 2005, and are still being modified to become even better.
Some epigenetic errors have also been linked to neuropsychiatric disorders such as schizophrenia. DNA rearrangements of expressing and silencing some genes results in some protein production that affects the memory and brain tissues malformation that is seen in patients with schizophrenia, psychosis and bipolar disorders. In addition, some mutations linked to epigenetic alterations have been linked to certain syndromes such as the pediatric syndrome, says McEwen (2017). This syndrome causes abnormal expression of genes during the first few years of an individual’s life. Girls found with this syndrome exhibit low brain growth causing metal disabilities. The pediatric syndrome also causes major development deficiency due to some losses in essential proteins necessary for maintaining the inactivity of DNA. The result is neurological and physical disorders.
Epigenetics is said to be the future of medicine, thanks to advancements in technology and education. Further research into epigenetic alterations will lead to breakthroughs in the medical field. In the clinical environment, the breakthroughs in medical research are determined by the ability of the results to alter the health care problems in treating a disease. A disease is often identified by the signs and symptoms. From these, doctors are able to identify the type and cause of disorder and come up with a correction solution. In previous years, doctors used screening and testing to come up with these solutions. Currently, due to the changes in environment and diet, it has become impossible to rely on screening and testing alone to determine the diagnosis or prognosis of an ailment. The mutation of genes calls for more advanced methods such as genomic studies. The genomic study allows doctors to come up with more appropriate prognosis, diagnosis, analysis of metabolism and the correct dosage to administer to an individual (Kanherkar, et al. 2014).
Genomic studies refers to the study of an individual’s gene composition and the roles of these genes in inheritance through the analysis of a genome. A genome is the DNA composition exiting in call of an organism. Genomic studies enables a researcher to determine the DNA sequence essential in understanding the root cause of a sickness. In addition to coming up with the correct diagnosis, genomic study aids in predicting the chances of an individual contracting a certain disease. For chronic diseases, basic screening can prove to be inefficient. Doing an analysis of their genomic background can help in knowing the risk factors of the individual. Thus the individual is made aware of certain areas to take precaution of and reduce the chances of them having to contract the disease. The individual can then make decisions about their lifestyle that will be helpful in prevention (Kanherkar, et al. 2014). Besides this, genetic screening also aids in personalizing treatments making them more efficient.
In future, some practices such as pharmacogenomics will be helpful in determining the correct composition of a drug to increase its effectiveness. Pharmacogenomics entails analyzing the metabolism of a drug including its transporters, receptors, and enzymes affecting the response of the drug to certain ailments. Pharmacogenomics will enable medical researchers personalize a drug to the specific needs of a patient as opposed to the current and traditional concept that one type of drug cuts across all needs of a variety of patients exhibiting almost similar symptoms. Some essential factors such as the age, nutrition, infections, weight, and gender affect the way an individual reacts to a certain drug. With pharmacogenomics, these factors allow doctors to give maximum concentration t a patient and administer the best medication (Kanherkar, et al. 2014).
A drug’s response rate is determined by two disciplines namely, pharmacodynamics and pharmacokinetics. Pharmacokinetics monitors drug levels and provides a platform for analyzing phenotypic makers that are essential in personalizing medicine. Different people react to medicine differently due to mutations in the genes and drug metabolism (McEwen, 2017). Variations such as drug transporters that are encoded in a number of genes and transferase encoded in polymorphic genes are also linked to mutation of genes. A technological advancement known as Microarray technology has been proven to detect approximately 29 variants of two genes that affect the response rate of prescription medication.
In addition, according to McEwen (2017), polymorphic genes encode drug receptors and have been linked to various types of cancers. For instance, when the leukemia viral homolog is over-expressed in breast cancer, the treatment would be the fusion of a highly sensitive protein thus activating mutations that result in the correcting of the over-expression. Genotyping, therefore, becomes essential in understanding the patterns of diseases, how to manage the disease and what type of drug or procedure would be most effective in eliminating or correcting the disease and gene formation within the practice of personalizing medication. Of course, these knowledge is still in its theoretical stage, with researchers trying to gain more concrete findings. Once the studies of genetic variability and polymorphism have been completely mastered, the findings can be related to future studies in clinical management.
Further studies have revealed that splicing usually occurs in 59% of all genes in a human being. The genetic variations affect the stability of splicing and mRNA. This further leads to epigenetics through a process called RNA silencing which basically involves the silencing of inappropriate events. The silencing then causes the epigenetic loops to reinforce themselves. RNA classes regulate the expression of genes. These RNAs have the ability to stop transcriptions and modify the structures of chromatin. According to McEwen (2017), RNA silencing has proved to be important in controlling transposition of events as well as in development. Most dormant cells are silenced to pave way to the more active cells and aid in the continuity of development. This silencing can be used to regulate harmful cells such as in cancer treatment thereby killing the harmful ones. In addition, some profiles obtained from the expression patterns through the microarray technology are also used in the classification of cancers. Therapy of cancer is then based on altering cellular pathways and genes and thus genomic medicine can be applied. More specific cancer therapy will involve cell-specific treatments opening new possibilities of cancer management thus increasing the chances of the survival of the patient.
There are different types of cancers that exist. Each type has a different rate of genetic mutation. For instance, melanoma has a mutation rate of 73% while thyroid cancer follows closely with 56%. Patients with high mutation rate have a higher probability of developing cancerous tissues. For breast cancer, there is usually an over-expression of proteins on the cell surface that are referred to as epidermal growth that affects the cell receptors making it difficult for standard therapy to be effective. McEwen (2017) further explains that drugs such as transtuzumad can be applied to decrease the occurrence of the epidermal growth and also the reoccurrence. This drug is more specific that the use of chemotherapy alone. Patients with colon cancer have the KRAS mutation that can be corrected with a drug known as panitumumab and centuximab and these can be applied alongside chemotherapy.
In conclusion, epigenetic mechanisms control a variety of modifications in gene expressions. Some of these modifications are influenced by environmental exposures and what individuals intake. Patients with alterations in epigenetic mechanisms may not respond well to conventional screening and treatment (McEwen, 2017). To ensure maximum effectivity of medicine, it may be important for future generations to concentrate more on personalized medications and employ more advanced tools to identify the specific DNA sequences of individuals and use this as prediction of the probability of a disease occurring. This way, not only will there be a wide array of medications treating some diseases that are untreatable currently, but the immune system of individuals would have been improved. The number of people contracting chronic diseases will also go down.
Understanding that every patient is unique also sparks interest in epigenetic studies. In addition, understanding the environmental influences on an individual’s genetic composition or the genetic background aids in personalizing medication (Kanherkar, et al. 2014). More research into the field of epigenetics will lead to closing some diverse gaps in curing diseases and enhancing human health. However, researchers should be careful not to interpret the current findings ignorantly. Furthermore, people should critically approach claims of changes in epigenomes in certain ways via thought power. The future of medicine does indeed depend on epigenetic studies but there has to be conclusive evidence before the same is applied.
References
Kanherkar, R. R., Bhatia-Dey, N., & Csoka, A. B. (2014). Epigenetics across the human lifespan. Frontiers in cell and developmental biology , 2 (49), 1-19.
McEwen, B. S. (2017). Integrative medicine: Breaking down silos of knowledge and practice an epigenetic approach. Metabolism Clinical and Experimental , 69 , S21-S29.
