This webpage was produced as an assignment for Genetics 677, an undergraduate course at the University of Wisconsin - Madison.
A Descriptive Review of the Differences Between a Cystic Fibrosis Primary Literature Manuscript and a Cystic Fibrosis Popular Press Article
The FASEB journal published a manuscript in July of 1992 that describes the cystic fibrosis gene responsible for this disease, CFTR. Although the etiology of CF has been apparent for many years, the detection of the CFTR gene was made possible using a novel genetic technology called positional cloning. In this manuscript the authors McIntosh and Cutting report on the etiology and pathogenesis of the CFTR gene in detail, describing the discovery of multiple genotypic mutations, their influence on the disease state and new therapies based on the functional analysis of the gene and its pathogenesis.
Mutations of the CFTR gene are being investigated by using transient expression systems. Understanding the change in the processing, function, and ion transport of the CFTR gene is the basis for developing new therapies to treat CF. McIntosh and Cutting describe the new therapies based on the recent discoveries of the etiology and pathogenesis of CF including:
- A pharmaceutical treatment option increasing the function of a common mutation that exhibits partial functionality.
- Treatments that compensate for electrolyte abnormalities by affecting the movement of ions resulted in reduced sputum viscosity and resulting in improved pulmonary status.
- CFTR protein therapy using the milk of mice as a replacement therapy.
- Recombinant DNase aimed at improving viscous secretions from the lung.
- Gene therapy using a replication deficient adenovirus to deliver normally functioning CFTR to affected epithelial tissue.
A popular press article published by Time magazine in 1992, presents a human interest story of a girl affected by cystic fibrosis and the current therapy research. The Times article lacked descriptive details about the disease and the way genotypes influences the form of disease. Nonetheless, the information on the therapies listed in this article was analogous to the information that the manuscript listed in greater scientific detail.
This article explained the research in simple terms but with enough science to make the therapies seem ‘real’, which according to the manuscript they are. Unfortunately, the therapies were presented in a way that made them appear to be ready for use when in actuality much more work and research will need to be accomplished before this is true. Work continues today on an adenovirus vector that is ideal as a carrier for gene therapy.
Mutations of the CFTR gene are being investigated by using transient expression systems. Understanding the change in the processing, function, and ion transport of the CFTR gene is the basis for developing new therapies to treat CF. McIntosh and Cutting describe the new therapies based on the recent discoveries of the etiology and pathogenesis of CF including:
- A pharmaceutical treatment option increasing the function of a common mutation that exhibits partial functionality.
- Treatments that compensate for electrolyte abnormalities by affecting the movement of ions resulted in reduced sputum viscosity and resulting in improved pulmonary status.
- CFTR protein therapy using the milk of mice as a replacement therapy.
- Recombinant DNase aimed at improving viscous secretions from the lung.
- Gene therapy using a replication deficient adenovirus to deliver normally functioning CFTR to affected epithelial tissue.
A popular press article published by Time magazine in 1992, presents a human interest story of a girl affected by cystic fibrosis and the current therapy research. The Times article lacked descriptive details about the disease and the way genotypes influences the form of disease. Nonetheless, the information on the therapies listed in this article was analogous to the information that the manuscript listed in greater scientific detail.
This article explained the research in simple terms but with enough science to make the therapies seem ‘real’, which according to the manuscript they are. Unfortunately, the therapies were presented in a way that made them appear to be ready for use when in actuality much more work and research will need to be accomplished before this is true. Work continues today on an adenovirus vector that is ideal as a carrier for gene therapy.
Primary Literature Manuscript
"Cystic Fibrosis Transmembrane Conductance Regulator and the Etiology and Pathogenesis of Cystic Fibrosis"
Iain McIntosh and Garry Cutting
July 1992
"Cystic Fibrosis Transmembrane Conductance Regulator and the Etiology and Pathogenesis of Cystic Fibrosis"
Iain McIntosh and Garry Cutting
July 1992
| CFTR and the Etiology and Pathogenesis of CF |
_______________
References
1. McIntosh, I., and Cutting, G.R. (1992) Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis. FASEB J.6, 2775-2782
2. Purvis, A. (1992) Laying siege to a deadly gene. http://www.time.com/time/magazine/artilce/0,9171,974941-3,00.thml. Accessed February 18, 2010.
3. Sanders, R. (2009) 'Evolved' virus may improve gene therapy for cystic fibrosis. http://berkeley.edu/news/media/releases/2009/02/17_schaffer.shtml Accessed March 6, 2010.
References
1. McIntosh, I., and Cutting, G.R. (1992) Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis. FASEB J.6, 2775-2782
2. Purvis, A. (1992) Laying siege to a deadly gene. http://www.time.com/time/magazine/artilce/0,9171,974941-3,00.thml. Accessed February 18, 2010.
3. Sanders, R. (2009) 'Evolved' virus may improve gene therapy for cystic fibrosis. http://berkeley.edu/news/media/releases/2009/02/17_schaffer.shtml Accessed March 6, 2010.
