Discussion: Heritable Diseases and Conditions
Instructions:
After studying the content of the module and the suggested resources, participate and comment on the most prevalent diseases and health conditions and their possible inheritable component. Support your answer using the material studied.
Remember to review the academic expectations for your submission.
Submission Instructions:
- Submit your initial discussion post by 11:59 PM Eastern on Wednesday. You will receive a 10 point deduction per day if submitted late.
- Contribute a minimum of 150 words for your initial post. It should include at least 2 academic sources, formatted and cited in APA.
- Respond to at least two of your classmates’ discussion posts by 11:59 PM Eastern on Sunday. Ask a question, and provide a different viewpoint.
One of the most prevalent heritable diseases with a significant inheritable component is cystic fibrosis (CF). CF is a genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which affects the production of a protein that regulates the movement of salt and water in and out of cells. This leads to the production of thick, sticky mucus in various organs, particularly affecting the lungs and digestive system.
Research has identified over 1,700 different mutations in the CFTR gene, with some mutations being more common in certain populations. For example, the ΔF508 mutation is the most common mutation among individuals with CF worldwide. The inheritance pattern of CF is autosomal recessive, meaning that a person must inherit two defective copies of the CFTR gene (one from each parent) to develop the disease.
Furthermore, there are several other heritable diseases and conditions with a genetic component, such as Huntington’s disease, sickle cell anemia, Duchenne muscular dystrophy, and hemophilia, among others. Each of these conditions has a specific genetic basis and inheritance pattern, contributing to their prevalence and impact on affected individuals and their families.
References:
- Cutting, G. R. (2015). Cystic fibrosis genetics: from molecular understanding to clinical application. Nature Reviews Genetics, 16(1), 45-56. doi:10.1038/nrg3849
- Rowe, S. M., Miller, S., & Sorscher, E. J. (2005). Cystic fibrosis. The New England Journal of Medicine, 352(19), 1992-2001. doi:10.1056/NEJMra043184