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2 pages/β‰ˆ550 words
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Style:
APA
Subject:
Health, Medicine, Nursing
Type:
Research Paper
Language:
English (U.S.)
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Topic:

Main Immune Defense Mechanisms and Genetic Diseases

Research Paper Instructions:

The body is exposed to several conditions that result in damage (pollutants, sunlight, infectious agents) and damage from within (cancer). This damage can occur to a single cell or to multiple cells. When multiple cells become involved, this results in disease or death of the individual. The body, being a sophisticated machine, developed a multilevel system of interactive defense mechanisms: innate immunity, inflammatory response, and adaptive immunity.
Genetics is the study of biologic inheritance. An understanding of genetics is essential to the study of pathophysiology. Insight into the genetic basis of inherited disorders has been a growing area of research. Identifying genes related to disease has increased from fewer than 200 per year in the early 1990s to almost 3000 yearly in 2011. This can be credited to the discovery of the Human Genome and studying the human genome data.
A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes) (National Human Genome Research Institute, 2012).
Through research we are learning that most diseases have a genetic component. Some are caused by inherited mutations and present at birth, such as sickle cell disease, cystic fibrosis, and Tay-Sachs, while other are caused by mutations that occur throughout the life cycle. These mutations are not inherited but occur dues to some environmental exposure, such as cigarette smoke, and include many cancers and some forms of neurofibromatosis.
Most genetic disorders, however, are "multifactorial inheritance disorders," meaning they are caused by a combination of inherited mutations in multiple genes, often acting together with environmental factors. Examples of such diseases include many commonly occurring diseases, such as heart disease and diabetes, which are present in many people in different populations around the world (National Human Genome Research Institute, 2018).
Objectives
Discuss the three mechanisms of defense.
Describe acute vs chronic inflammation.
Discuss active and passive immunity.
Identify major chromosomal abnormalities.
Differentiate between autosomal dominant inheritance, autosomal recessive inheritance, and X-linked inheritance.
Discuss multifactorial inheritance.
Discuss the significance of gene mapping.
Readings
Genetics Home Reference.
https://www(dot)genome(dot)gov/For-Patients-and-Families/Genetic-Disorders
http://ghr(dot)nlm(dot)nih(dot)gov/

Research Paper Sample Content Preview:

Module 2: Immunopathology and Genetic Diseases
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Module 2: Immunopathology and Genetic Diseases
The human body has three main immune defense mechanisms: first, second, and third-line defense. The first-line defense mechanism includes the skin and the mucus membrane, while the second one comprises the defensive cells, inflammation, fever, and defensive proteins. The first line of defense provides both the chemical and physical barriers to the entry of pathogens. The third-line defensive mechanism is the immune response defending the body against specific types of pathogens (Gunther & Seyfert, 2018). This third system includes antigens of the highest specificity to fight foreign microbes by eliciting immune responses.
Damaged cells, pathogens, and toxic compounds can trigger immunological responses, also known as inflammation. Depending on the triggers, these responses can be acute or chronic inflammation that results in disease or tissue damage in major organs such as the liver, pancreas, kidneys, heart, intestinal tract, brain, and reproductive system (Chen et al., 2018). Acute inflammation refers to the biological responses to fight infection and speed up the process of healing (Harvard Health Publishing, 2022). However, chronic inflammation is the persistence of the defense system to pump out more chemical messengers and leucocytes, thus prolonging the healing process.
Active and passive immunity are the two forms of body defenses protecting against infections. Active immunity refers to the biological responses triggered following exposure to a specific pathogen. The B cells will create disease-specific antibodies that will destroy or neutralize disease agents. However, passive immunity involves protecting the body against diseases, but the antibodies are produced outside of the body. Three main characteristics differentiate passive from active immunity. Passive immunity has an immediate effect but does not last for long (Slifka & Amanna, 2018). Unlike active immunity, this kind of immunity does not also need previous body exposure to a disease agent or antigen.
Many diseases in humans have a genetic cause, and several chromosomal aberrations can result in disease. Major chromosomal abnormalities are classified as either structural or numerical. Individuals with one missing chromosome in a pair have a numerical chromosomal abnormality known as monosomy. Trisomy is when more than two chromosomes are missing. Examples of numerical chromosomal abnormalities include Down syndrome, characterized by mental retardation (Chromosome Abnormalities Fact Sheet, 2019). Structural abnormalities occur following the alteration of chromosomes' structure, such as duplication, deletion, or translocation.
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