Essay A Brief Discussion of Genetic Diseases

Heredity also plays a role in the development of cancer. If a person’s relatives have a history of cancer, then that person has a higher risk of developing cancer. Genetic variations, particularly those influencing how the body responds to carcinogens, may create a greater vulnerability to cancer.

Genetic testing is used to determine the risk of a patient or patient’s offspring developing genetic diseases. This is done with DNA sequencing in adults and preimplantation genetic diagnosis (PDG) on embryos. These methods of genetic testing are effective means of determining the likelihood of developing diseases such as Huntington’s disease, a disease resulting from trinucleotide repeat on chromosome 4p16.3 that causes uncontrollable muscle movement and decrease in cognitive function. However, they only determine probability, which isn’t an entirely reliable means of knowing whether or not symptoms will arise.

The P1 cross was between four wmf females and nine wild-type males. The F1 progeny consisted of 12 wild-type females, and four triple-mutant males. The P2 cross resulted in 13 females, and 3 males, all with the wild-type phenotype (Table 1). The two parental crosses identify that the mutations are X-link recessive. The triple-mutant females of the P1 cross produce mutant male offspring, but wild-type females. The F1 females would be heterozygous for the mutations, but don’t express the mutations because they still have a wild-type X chromosome. However, the F1 males only have one X chromosome that comes from a mutant mother. The offspring for P1 were crossed again to make and F1 cross. The F1 cross would be X+/Y and X+/X. The F1 cross resulted in 100 F2 progenies over the course of 7 days.

A cancer cell is formed when the cell’s DNA is damaged but not repaired. Instead of the cell dying, like a normal cell, it reproduces new cells which also have the damaged DNA that the original cell had. Factors that can cause a cell to be damaged are mistakes during the reproduction of the cell, environmental reasons, such as smoking or too much sun exposure. The cancer cells form tumors which then invade the tissue of a certain body part, like the breast, lungs, brain, or prostate. Cancer can spread sometimes from body part to body part, but is named from where it starts. For instance, if somebody were to be diagnosed with breast cancer, and developed cancer in their lungs, it would be metastatic lung cancer. Metastasis is how cancer can spread to other body

While there are several biological factors that have the ability to lead to cancer, genetics is the most currently researched. A study done by Bharaj, Scorilas, Giai and

The reading shows disease and inheritance in an entirely new light. It introduces the idea that genetically inherited diseases may have been selected for, which means that they must provide certain evolutionary advantages. It reorients the reader’s perspective about a disease like hemochromatosis, which has the potential to be incredibly harmful and even deadly, establishing that it may have once provided protection from the bubonic plague, making it an advantageous trait. This brings other genetic diseases into question, examining why diseases that appear to be harmful have not been eliminated from the gene pool. The idea that a disease that is harmful and dangerous in modern times could have once been a beneficial adaptation is very interesting.

The process of unraveling the mysteries of the human genome creates enormous possibilities in the world of science. Knowing where on our chromosomes a specific gene lies allows scientists to look inside the human body with more intensity than any X-ray could ever achieve. By analyzing the genetic make-up of human beings, scientists can track diseases back to their most fundamental stages. In recent years, scientists have discovered two genes that play a role in the development of various kinds of cancer in both men and women. With the additional ability to test individuals for their possession of deformed copies of these genes, many ethical questions have been raised. Although the

Mutations (for most cancers) must appear in both tumour suppressing genes and oncogenes for cancers to form. The tumour suppressing genes and oncogenes act in complementary fashion to one another; one pulls forward, and the other pushes back ensuring that the cell cycle occurs in a controlled manner (Sherr, 2004).

Moreover, it’s important to understand that gene mutation occurs in our cell all the time. Accordingly, the prevention of cancer is profoundly dependent on the p53 tumour suppressor protein, which is the process to eliminate excess, damaged or infected cells by apoptosis (Haupt 2003). But if the cell doesn’t die in the process of apoptosis, it may lead a person to developing a cancer. Oncogene are a sequence of deoxyribonucleic acid (DNA) that has been altered or mutated from its original form and induces cancer (Encyclopaedia Britannica 2017). Some people have high risk of developing cancer because they inherited mutations in certain genes (Cancer research UK 2014). Mutation are classified into two, inherited and acquired types of mutation, widely discussed below (ASCO 2017)

When you change the genetic makeup of a cell, you change the way it functions. When you change the genetic code for cell cycle regulation, you can develop cancer.

Cancer is a scary word. What is actually means is that a normal cell in the body has become abnormal. When these abnormal cells replicate, they often lump together and form masses we call tumors. Sometimes, the cells travel to other parts of the body. This spreading is known as metastasis. Cancers that are localized are much easier to treat than those which have metastasized.

This rapid cell growth is caused by a mutation in the DNA. The two most common genes that risk the chance of cancer are the p53 gene and the BRCA1 gene. The p53 gene is also known as “the guardian of the genome.” The function includes the ability to control cell cycles. This gene is mutated in more than half of cancers in humans. The Breast Cancer Gene, or BRCA1 is normally supposed to suppress tumor functions, but when this backfires, a tumor can begin to form.

One thing I learned in researching cancer is that in order for cancer to appear in our body it has to avoid being detected by our immune system. The cancer cells have to avoid being detected by the immune system because if they are detected the immune system will try and fight off the abnormality. If your immune system does not detect the abnormality in cells, the cancer cells will grow and reproduce causing cancer to spread rapidly. The cancer cells that are not detected they can create colonies and spread rapidly.

Cancer is caused inside the human body by changes or mutations to DNA in the cell. Mutations are able to command a healthy cell to grow and divide exponentially, all with the same mutation. Mutations lack the controls or tumor suppressor genes that tell them when to stop growing, thus allowing the cancer cells to multiply (Mayo Clinic Staff). These are just some of the mutations that are possible within cells, which can lead to cancer. Gene mutations can be inherited from parents, such as the BRCA 1 or BRCA 2 gene. Both BRCA genes together account for 20- 25% of hereditary breast cancers (“BRCA1”). There are known cancer causing chemicals called carcinogens which people may be exposed to on a daily basis. A person may have a predisposition to cancer, but it doesn’t necessarily mean he or she will develop cancer. Occasionally, the inherited gene mutation is supplemented by the carcinogen, making a person more likely to develop cancer when exposed (Mayo Clinic

Cancer occurrs by the production of multiple mutations in a single cell that causes it to proliferate out of control. Cancer cells often different from their normal neighbors by a host of specific phenotypic changes, such as rapid division rate, invasion of new cellular territories, high metabolic rate, and altered shape. Some of those mutations may be transmitted from the parents through the germ line. Others arise de novo in the somatic cell lineage of a particular cell. Cancer-promoting mutations can be identified in a variety of ways. They can be cloned and studied to learn how they can be controlled.