Genetics plays an essential role in illnesses and diseases like cancer, diabetes, allergenic disorder, cardiovascular illness, and reaction to certain medications and food. Hence, having an exceptional understanding of the genetic disorder and genetic factor is essential in disease prevention and health promotion. Genetic disorders occur for several reasons, and it is primarily explained in terms chromosomes enclose the gene that undergoes alteration in the individual experiencing the disorder (McCance & Huether, 2019). The purpose of this discussion is to explain the role genetics plays in the disease in the assigned case study. Also, explain why the patient experiencing the disorder is suffering from the symptoms described and the physiological response, including the reason for the reaction. The discussion will also say the outcome based on other characteristics like gender and genetics.
The Role of Genetics in Colorectal Cancer
Like most genetic disorders, genetics plays a significant role in the formulation and development of colorectal cancer. The disease is linked to changes in genes that control the body’s functions and is connected to autosomal dominant inherited genes. However, two syndromes such as NTHL1 and MUTYH, come in recessive format (McCance & Huether, 2019). A family history of colorectal cancer places an individual at a higher risk of developing the disease. Colorectal tumors occur as epithelial-derived tumors such as adenocarcinomas and adenomas and present with a wide range of neoplasms varying from benign growth to invasive cancer. Colorectal polyps are one precursor of colorectal cancer, and the conversion of polyps to cancer undergoes the adenoma-carcinoma progression. Polyps are primarily considered non-neoplastic (McCance & Huether, 2019).
Why the Patient is Presenting with the Specific Syndrome Described
The crampy pain in the left lower quadrant and constipation the 65years old African America obese patient is experiencing are consistent with the symptoms of diverticulitis which manifest itself through the development of pouches that develop inflammation or become infected. The pain that results from the disorder is on the lift side and may cause the individual to experience constipation, nausea, chills, vomiting, cramping, and fever. In a severe condition, the individual experience bleeding, blockages, or tears. Individual with severe diverticulitis has a higher risk of developing colorectal cancer. Obesity and inactivity are precursors of colorectal cancer. Also, the fact that the patient is a male increases the chance of developing the illness as male are more susceptible than women to develop the illness (McCance & Huether, 2019).
The Physiologic Response to the Stimulus Presented in the Scenario and why the Response Occurred.
Physiologic response to the stimulus is the occurrence of autophagy which is the process that the body uses to clean damaged cells so that new cells are produced. The autophagy response occurs to prevent cancer from developing to a malignant stage and spread cancer to other parts of the body, which can cause more damage (Burada et al., 2015). It plays the role of surveillance which normal cells use to prevent themselves from becoming cancer cells. In the early stages of tumor development, autophagy can help reduce tumors by promoting inflammatory response, immune response, and stability of the genes. It stimulates the immune response to produce interferon and antigens that boost adaptive immunity (Burada et al., 2015).
The Cells that participate in this Process
The adenomatous polyposis coli gene located on chromosome 5q21, responsible for encoding 2,843 amino acid protein, is one of the most common causes of hereditary colorectal cancer. The gene is essential for the adhesion of cells and transduction signal. The primary function of the APC protein in regulating the inner cell concentration of beta-catenin, a primary intermediary of the Wnt signal transduction channel. (National Cancer Institute, n.d). The gene is a tumor suppressor gene, and the APC deficiency leads to a chromosomal imbalance in the colorectal tumor channel. MUTYH gene, also known as Mut Y homolog gene, is situated on chromosome 1P34.3-32.1 and encoded by glycosylase protein, a base excision repair responsible for fixing oxidative damages. Another leading cause of hereditary colorectal cancer is Lynch syndrome, caused by a gene mutation in MMR genes. The mutation affects DNA mismatch repairs, thereby increasing the chance of the affected individual’s colorectal cancer (National Cancer Institute, n.d).
How Another characteristic (e.g., gender, genetics) Would Change Your Response
Other characteristics that could change the response include being a smoker, using or consuming alcohol, and a certain kind of diet. Being a smoker increases worsens the illness and increases the chance of dying from the disease (Nunez et al, 2018). Also, alcohol consumption increases the risk of developing the disease; hence it is advisable not to consume alcohol. Certain kind of diet, such as food high in red meats and processed food, increases the risk of developing the illness (Nunez et al, 2018).
Burada, F., Nicoli, E. R., Ciurea, M. E., Uscatu, D. C., Ioana, M., & Gheonea, D. I. (2015). Autophagy in colorectal cancer: An important switch from physiology to pathology. World journal of gastrointestinal oncology, 7(11), 271–284
National Cancer Institute (n.d). Genetics of Colorectal Cancer (PDQ®)–health professional version. Retrieved June 1, 2022, from https://www.cancer.gov/types/colorectal/hp/colorectal-genetics-pdq
McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.
Nunez, C., Nair-Shalliker, V., Egger, S., Sitas, F., & Bauman, A. (2018). Physical activity, obesity and sedentary behaviour and the risks of colon and rectal cancers in the 45 and up study. BMC public health, 18(1), 325
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