course material

1. [From 10$/Pg] 11 271 –
[From 10$/Pg] 11 271 – Introduction 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

2. 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
ProcessThe 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).ReferencesBurada, 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), 271–284National 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-
pdqMcCance, 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