The Anatomy and Physiology of Cystic Fibrosis
The Anatomy and Physiology of Cystic Fibrosis
Samantha J. Cordova
Pueblo Community College
Abstract
The main topic researched in this paper is cystic fibrosis. The research in detail is that cystic fibrosis is classified as a genetic disorder and in what ways this disorder affects the gene expressions. More facts found in this paper will be who can get cystic fibrosis, which organs are mostly affected, and what specifically causes the problems found from cystic fibrosis. Common symptoms from this disorder can be salty sweat, diarrhea, difficulty gaining weight, breathing problems, lung infections, persistent cough which will be more discussed in depth in the paper. The symptoms will be detailed with how the disorder has caused them and their severity. Lastly the research will conclude with the treatments that are available including respiratory and digestive therapies.
The Anatomy and Physiology of Cystic Fibrosis
Cystic fibrosis is the most frequently seen inherited disease in Caucasians. CF is described as a faulty gene that produces protein inadequately which causes thick mucus production throughout the body. Its possibility rate is approximately 1 in 2,500 with live births and the carriers are 1 in 25. It is considered as a damaged gene which has been identified as position 508 of the nucleotide binding fold in cystic fibrosis carriers. It is known as a deletion of a single codon that leads to a deletion of phenylalanine an essential amino acid, (J.R.W. Govan and V. Deretic, 1996, p. 540). It has been found that the gene is largely restricted to epithelial cells. The highest RNA levels are found in the pancreas, salivary and sweat glands, intestines and reproductive tract, (Francis S,Collins,1992,p.774).
Cystic fibrosis is an inherited sickness. It can affect children and young adults. If someone is a heterozygous carrier of one normal and one mutant allele they are said to be a carrier with no symptoms. If both parents are carriers the
Samantha J. Cordova
Pueblo Community College
Abstract
The main topic researched in this paper is cystic fibrosis. The research in detail is that cystic fibrosis is classified as a genetic disorder and in what ways this disorder affects the gene expressions. More facts found in this paper will be who can get cystic fibrosis, which organs are mostly affected, and what specifically causes the problems found from cystic fibrosis. Common symptoms from this disorder can be salty sweat, diarrhea, difficulty gaining weight, breathing problems, lung infections, persistent cough which will be more discussed in depth in the paper. The symptoms will be detailed with how the disorder has caused them and their severity. Lastly the research will conclude with the treatments that are available including respiratory and digestive therapies.
The Anatomy and Physiology of Cystic Fibrosis
Cystic fibrosis is the most frequently seen inherited disease in Caucasians. CF is described as a faulty gene that produces protein inadequately which causes thick mucus production throughout the body. Its possibility rate is approximately 1 in 2,500 with live births and the carriers are 1 in 25. It is considered as a damaged gene which has been identified as position 508 of the nucleotide binding fold in cystic fibrosis carriers. It is known as a deletion of a single codon that leads to a deletion of phenylalanine an essential amino acid, (J.R.W. Govan and V. Deretic, 1996, p. 540). It has been found that the gene is largely restricted to epithelial cells. The highest RNA levels are found in the pancreas, salivary and sweat glands, intestines and reproductive tract, (Francis S,Collins,1992,p.774).
Cystic fibrosis is an inherited sickness. It can affect children and young adults. If someone is a heterozygous carrier of one normal and one mutant allele they are said to be a carrier with no symptoms. If both parents are carriers the
References: Francis S. Collins (May 18,1992). Cystic Fibrosis: Molecular Biology and Therapeutic Implications. Retrieved from http://courses.washington.edu/framewks/11_13_06/CF_paper.pdf.pdf J.R.W. Govan, V. Deretic (September 2006). Microbial Pathogenesis in Cystic Fibrosis: Mucoid Pseudomonas aeruginosa and Burkholderia cepacia. Retrieved from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC239456/pdf/600539.pdf P B Davis and P A di Sant’Agnese (June 6,1984). Diagnosis and treatment of cystic fibrosis an update. Retrieved from http://chestjournal.chestpubs.org/content/85/6/802 M E Dodd and S A Prasad (July 1,2005). Physiotherapy Management of Cystic Fibrosis. Retrieved from http://crd.sagepub.com/content/2/3/139 Andres J. Pumariega, David Breiger, Deborah Pearson, Charles Dreyer, Daniel K. Selheimer (Fall of 1990). Behavioral Symptoms in Cystic Fibrosis vs. Neurological Patients. Retrieved from http://psy.psychiatryonline.org/cgi/reprint/31/4/405