Gene mutation
In this modern era of technological advancement and development, genetic mutation has become one of the most studied areas by scientists. Gene mutation refers to alteration on the DNA sequence such that the new sequence differs from what most people have. Since interpreting the human genome in 2003, scientists have tried to understand the genetic patterns of humans to try and solve diseases such as cancer. Decoding the human genes involves studying the DNA structure in different human beings to understand the various mutations from experiencing different conditions in the environment. Genetic mutations are classified into two groups, which are hereditary mutations and acquired mutations. Hereditary mutations are passed from one generation to another through parents. These mutations occur naturally and are found in almost every cell in the human body. These mutations are present in the parent’s sperm cells or egg cell hence also referred to as germline mutations. When the fertilization process occurs, DNA from both parents is combined, so if there is a mutation in any of the cells, it is passed on to the offspring. Acquired or somatic mutations occur during a person’s lifetime, and unlike hereditary, they are not in every cell in the body. Somatic mutations occur due to exposure to environmental conditions such as exposure to ultraviolet variations or unexpected changes in cell division. Mutations that are acquired cannot be passed from one generation to another. This mutation may cause harmful effects such as diseases that cannot be cured, such as cancer and diabetes. Although the disease-causing variations are not very common in the population, some occur regularly. Studies of genetic mutations are essential since they have helped in improving health standards in both animals and human beings.
Article 1
Since scientists discovered a genetic mutation in 2003, a lot of efforts have been put to understand the human gene. Through these studies, an individual’s health can be predicted hence preventing and curing disease. A study by USC Dornsife has given insight into why it has become so challenging to predict most diseases and disorders brought by a genetic mutation. According to Ian Ehrenreich, the lead biologist and author in USC Dornfire, different people have different genetics that causes diverse variations when exposed to different environmental conditions. This makes it harder to predict the behavior of various mutations. Doctor Ehrenreich gave an example of the mutations that cause colorectal cancer. These mutations affect the body’s ability to repair DNA mismatch resulting in colorectal cancer. However, some individual has the same variations but don’t develop cancer. Due to growing research in gene mutation, scientists and researchers have identified and singled out specific mutations responsible for particular diseases or traits in human beings. However, these studies have not considered how the environment, genetic differences, and new variations differ from one person to another. Scientists have termed this as “background effects,” and they play a critical role in the manner of mutations in different individuals.
According to doctor Ehrenreich, mutations with unpredictable behavior are infrequent in humans. However, this becomes a significant challenge since these mutations are challenging to detect; it becomes harder to study their behavior. Using yeast as a study sample, researchers can explain how the interaction between new mutations and existing mutations give rise to new hereditary mutations in humans. In the study, Ehrenreich and his team introduced a deleted gene in two different samples of yeast strains. Systematically, they plotted interaction between the mutations and the pre-existing genetic difference. By exposing the samples to different environmental conditions, scientists were able to observe how different genetic mutations react with each other in different ecological situations. Through these findings, the team was able to map out the effects of the interaction of new and existing mutations in different environments. Ehrenreich explained the results by stating that the interaction between the mutations at different environmental conditions influenced the life or death of the cells.
Furthermore, the role of environmental conditions on genetics should be highly appreciated. Although the research was conclusive in did not fully explain how genetics work. Although the yeast experiment was a success, it essential to examine if it works in humans since the goal of the research was to cure or prevent genetic diseases.
Article 2
By studying a pea plant, Gregor Mendel discovered and noted the fundamental rule governing genetics and mutations. In his study, he found that there were aspects that were passed from parents to offspring know as genes. Long after Mendel’s death, in the 1990s, doctors discovered that humans were not so different since trait was passed from parents to children. Children inherited some diseases that were moved from their parents. In the modern era, over 7,000 Mendelians diseases have been discovered by scientists across the world through the screening of adults and children. However, it’s still a challenging subject, as many inherited diseases go undetected in the human gene. Using a wide variety of research data from electronic health records, a scientist has discovered that 3.7 percent of tested patients had a genetic mutation connected to an illness. Possibly over 4.5 percent of diseases such as kidney failure, which are nongenetic illnesses, have been caused by mutations. The scientist also suggests that through a computer, it possible to detect these mutations through programs that single out hidden disorders in the DNA strand. This is a massive milestone in combatting genetically transmitted diseases in human beings.
The study published by a scientist on electronic health records is a significant breakthrough in fighting genetically transmitted diseases. However, Dr. Joshua, a biomedical researcher at Vanderbilt University, suspected that the electronic records only revealed a tip of the iceberg in Mendelian disorders. However, countries are investing in more massive databases of health records such as DNA and records for thousands of people to assist in research. Dr. Joshua suggested that these records will discover new mutations in the human genetic structure. He and his coworkers have gathered massive data from Vanderbilt’s health record, which includes over two million patients.
Furthermore, over 225,000 people have registered as volunteers for genetic research, making it easier for scientists to analyze DNA. From the database, the scientist was able to analyze over 21,710 patients noting down their symptoms. The results were cross-checked with symptoms of Mendelian disease, which was a difficult task. This is because different patients had different combinations of symptoms, making it challenging to confirm the presence of a particular genetic disorder. Furthermore, some symptoms related to hereditary diseases may be symptoms of other diseases. Dr. Joshua and his team developed a scoring system where people with mutated genes recorded a point after many tests; over 800 people were singled out to have Mendelian diseases. Although the research did not meet its objectives, many scientists believe it a massive step in solving genetically inherited diseases.