Cystic Fibrosis: Causes and Treatment

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Table of Contents

Introduction
Causes
Treatment and management
Molecular aspects of cystic fibrosis
Results
Conclusion
Works Cited

Introduction

First described by Dorothy Andersen in 1938, the hereditary disease Cystic Fibrosis (CF) is believed to have appeared in human race around 3,000 BC as a product of gene mutations and human migrations.

Some of the signs attributed to this disease are repetitive damages in the respiratory system and may sometimes produce some digestive disorders. Different individuals are affected differently hence quite some difficulty in detecting the exact sign of this disease.

Causes

The disease is primarily characterised with secretion of slippery mucus. In normal conditions, mucus lubricates and protects the epithelial lining in airways in all systems of the body. Such systems include digestive, reproductive and other organs in the body. In most situations, people affected by cystic fibrosis are likely to abnormally secrete mucus.

Unlike normal mucus, the CF mucus is sticky and thick in texture. According to Harris and Maurice (21), this CF mucus poses a threat in an individual’s health system because it blocks and clogs the airways, reducing the channel of air passage. In turn, this affects the respiratory system, leading to difficulties in breathing efficiently (Harris and Super 36). Due to limitation of breath, an individual may suffer from wheezing or continuous coughing. The build-up of mucus encourages the existence of infections, with bacterial populations developing infections that eventually results to damaging of lungs.

This problem does not only have effects in the respiratory system, but also causes some digestive problems. Considering that the intestinal lining has an epithelial lining with mucus glands, it is worth noting that it is equally affected. This is especially found in young babies, where the intestines are blocked some few days after birth or when the kids are introduced to solid foods. Research has shown that the formation of thick yet sticky mucus is associated to pancreatic dis- functioning because the digestive enzymes block the pancreatic duct, causing some limitations in the production of insulin.

Consequently, such children have poor growth and development and experience reduced weight. According to (Rosaler 12), it may also lead to diarrhoea or malnutrition in adult. Although it is mostly mild in adults, the disease can be fatal in children. With improved ways and early detection, there can be effective ways for managing the condition.

Cystic fibrosis is associated with the CFTR gene. In its broad sense, the gene product has the effect of giving way to negatively charged particles to travel in and out of cell membranes (Fredrick and l Ibba 228). These particles, which are actually chloride ions, are responsible for production of sweat, a component of sodium chloride.

The ions also help in the movement of water in tissues, which are responsible of producing thin and free mucus that is important in body secretions (Harris and Maurice 25). The reproduction of CFTR hinders the chloride channel from its production of chloride ions in cell membranes. As a result, all the organs that require chloride such as lungs and other ducts start producing a sticky kind of substance and this is an indicator of cystic fibrosis (Hodson and Duncan 57).

Although some arguments tend to disprove, the disease is inherited through an autosomal pattern. This means that the same gene is multiplied repeatedly from the parent to the offspring in foetus development. However, it does not show any symptoms of the condition in the early development of the offspring unless physically detected.

Treatment and management

once there has been an early detection of this disease, a number of interventions may be applicable to manage the condition. For instance, treatment of lung problems can take part in form of therapy, medicine or taking different exercises. Under chest physical therapy, a patient is supposed to lie down on their stomach. Using gravity, the thick mucus forces itself down thereby reducing the quantity in the chest. An alternative therapy might be the use of a mechanical precursor that uses high frequency waves in order to pull the mucus out of the chest.

Breathing exercises may help in extraction of mucus as it helps loosen muscles hence easy release of mucus (Rosaler 36). Aerobics help in the overall fitness of body organs, including the respiratory system, with the excretion of salt that help in melting the mucus. In medical treatment, a doctor may subscribe antibiotics or medication that helps in mucus thinning. These medicines are effective and aid in reduction of lung infection and swelling along the airwaves. Oral or injected Anti-inflammatory drugs are effective at reducing infections in lungs.

Molecular aspects of cystic fibrosis

Article analysis

Zertal-Zidani, S, Busiah, A, Edelman, M., Polak, M and Scharfmann, R. “Small-molecule inhibitors of the cystic fibrosis transmembrane conductance regulator increase pancreatic endocrine cell development in rat and mouse”. Diabetologia 56. 2 (2013): 330-330. Print

Topic and purpose of the study

This article reports the process and findings of a recent study carried out to investigate the molecular aspects of cystic fibrosis. The researchers developed and carried out this research study at the research centre growth and signalling, faculty of medicine of the University of Paris Descartes, Paris.

They hypothesized that certain small-molecule inhibitors of the CR membrane have the potential and ability to increase the development of pancreatic endocrine cells in both rats and mice. This hypothesis was developed with an aim of developing an important ground on which new drugs that can activate the differentiation process for a number of multipotent progenitor cells. Specifically, the researchers aimed at testing glycine hydrazide (GlyH-10), glibenclamide and sulfonyurea.

Experimental design

It is worth noting that this study was done on laboratory animals as opposed to humans, given that the study on the specific drugs was still underway. As such, in vitro methodology was chosen as the best design for the research. They examined the actions of the drugs on the development of pancreatic cells derived from the rodents. In addition, a different experiment was used to test the action of Gly-H-101 on pancreatic cell development, but this experiment was entirely done in vivo. In fact, glycine hydrazide (GlyH-101) is actually a small-molecule inhibitor of CFTR.

Results

The article reports that there was little evidence to support the hypothesis that Glibenclamide alters the morphology as well as growth of the developing pancreases. In addition, there was little evidence that this drug exerts any deleterious effects on the exocrine cell development in the rodent pancreas.

However, it was surprising for the researchers to note that glibenclamide, when in high concentration, promotes the differentiation of endocrine cells. In fact, it was revealed that this promotion of differentiation could not be achieved with other sulfonylureas. This finding suggests that this drug actually possesses some off-target action. The researchers also acknowledge the fact that this effect was similar to the finding by previous studies that this drug also inhibits CFTR.

Conclusion

From the study, the researchers concluded that Glibenclamide and GlyH-101 have an impact of increasing the number of endocrine cells. This effect comes in through an increase in the size of the pool of the progenitors (neurogenin 3-positive) in the developing organ.

From this analysis, it is clear that the research article has provided evidence of a possibility of finding drugs that will target certain aspects of molecular biology of the disease. This has moved the researchers closer towards finding a potential drug to manage the condition. In fact, the research has opened an important field that needs additional studies to evaluate the possibility of finding an effective way to manage the condition.

Works Cited

Dahl, Morten, Anne Tybjaerg-Hansen, Peter Lange and Borge Nordestgaard. “Asthma and COPD in cystic fibrosis intron-8 5T carriers. A population-based study”. Respiratory Research, 6.2, (2008): 113-118. Print

Fredrick, Kurt and Michael Ibba. “How the sequence of a gene can tune its translation”. Cell 141.2 (2010): 227-228. Print.

Harris, Ann, and Maurice Super. Cystic fibrosis: The facts. Oxford: Oxford University Press, 1995. Print.

Hodson, Margaret E., and Duncan Geddes. Cystic fibrosis. London: Chapman & Hall Medical, 2010. Print.

Rosaler, Maxine. Cystic fibrosis. New York: Rosen Pub. Group, 2009. Print.

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