Topic: Genetic Disease due to DNA mutation
Nicolas Scott-Boxley
BSC1005
Outline Paper
Professor Doughty
How genetics cause diseases
Genes are the functional components of DNA and have different tasks in our entire body. It contains various instructions for making RNA or proteins and acts as a unit of transferring similar instructions from the parents to their children or as a unit of heredity. For our body to function properly, the body cells depend on proteins. A change in the gene’s instructions in the process of making proteins may results to mutation, making the protein to miss entirely or to be malfunction (Genetic and Health, n.d). When a protein that plays a crucial role in the human body is altered, there is disruption of the normal body development, and as a result, medical conditions such as sickle cell anemia and colorblindness develops. The alteration or malfunction of protein is usually caused by mutation, and this leads to a disease. A disorder caused by gene mutation in a single or multiple genes is referred to as a genetic disorder and can be caused by a various process including;
Mutations in a single or multiple genes
A combination of environmental factors, lifestyle and gene mutations.
Mutations in a single gene result in monogenic disease. The disorders occur when one gene mutate, and the conditions mostly run in families. The mutant gene can either be sex chromosome or autosome, and the related disease phenotype is either dominant or recessive. Examples of monogenetic disorders include;
Sickle cell anemia
Polycystic kidney disease
Cystic fibrosis (University of California, 2010).
Dominant versus Recessive disorders
Dominant disorders occur when one of the two diseased genes inherited from parental chromosomes is present while recessive diseases occur when both diseased genes inherited from parental chromosome are present.
Multifactorial inheritance diseases
They occur as a result of a combination of variation in numerous genes and the environmental factors. The disorders are as well affected by lifestyle and behaviors. The combination of these factors result in complex conditions such as;
Cardiovascular diseases
Diabetes
Cancer
Birth defects
Chromosomal disorders
These diseases occur as a result of chromosomes alterations. In this case, an individual’s genome may have an extra gene or may miss some genes in the chromosomes. As well, structural changes within individual chromosomes such as deletion or duplication of certain portions of the gene in the chromosomes can cause these disorders. Some of the examples of chromosomal disorders include;
Down syndrome
Prader-Willi syndrome
Chronic Myeloid Leukemia (Genetics Home Reference, 2017).
Conclusion
Most of the diseases we are suffering from today are as a result of gene mutation in the somatic cells of our body. Some of the disorders are inherited from our parents while others are acquired through mutation sometimes in the life of an individual. In this case, environmental, lifestyle and behavioral factors in combination with multiple genes mutation play a significant role in the development of diseases. Although many mutations cause diseases, some genes are beneficial since they contribute to genetic diversity and thus helping people to live a healthy life (The Tech, n.d).
References
Genetic and Health (n.d). How do genes impact health and disease? Retrieved from: http://www.genesinlife.org/genes-your-health/how-do-genes-impact-health-and-disease
Genetics Home Reference (March 14, 2017). How can gene mutations affect health and development? Retrieved from: https://ghr.nlm.nih.gov/primer/mutationsanddisorders/mutationscausedisease
The Tech (n.d). Mutations and Disease. Retrieved from: http://genetics.thetech.org/about-genetics/mutations-and-disease
University of California (February 20, 2010). How genes interact with their environment to cause disease. Retrieved from: www.sciencedaily.com/releases/2010/02/100218125156.htm
