An essay on cystic fibrosis and gene therapy

Hire Writer Cystic fibrosis is caused by mutants in a cistron responsible for production of a protein responsible for the motion of chloride ion during the cell membrane.

An essay on cystic fibrosis and gene therapy

Gene Without the cystic fibrosis variation of the CFTR gene, the CFTR proteins created by the gene act as a channel protein which can be found in the membranes of cells which line the passageways of organs such as the pancreas, lungs, and intestines.

The CFTR protein can be modified in numerous ways to give the host cystic fibrosis; in fact, over transformations of the CFTR gene have been recognized.

One of the most common of these mutations is a deletion of a single amino acid from the long chain of in the CFTR protein.

We will write a custom essay sample on Cystic Fibrosis Research Paper or any similar topic specifically for you Do Not Waste HIRE WRITER This causes a breakdown of the channel made with the missing amino acid, which means that it never transports chloride ions, like it was made to do, because it never reaches the cell membrane.

This order chooses the way that the protein is folded, and if this order is changed or altered, the way that the protein will also be modified, causing the protein to not be able to work.

In this case, the protein is a protein channel inside a membrane, and if folded improperly, the molecules that would normally pass through it are not able to, which means that the structure has failed to do its task, which is the transport of chloride and sodium across epithelium tissues. This failure is caused by the altered fold of the protein, because proteins function only when the proteins are folded perfectly.

When folded improperly, the substances for which the protein was made cannot fit through the protein channel, and so cannot pass through it. The phenotype or physical appearance of anyone with the autoimmune disease cystic fibrosis varies, as there are multiple possibilities and combinations, but have many recurring traits.

Most of the phenotypes of cystic fibrosis do not show is a visible manner in the very early stages of human life. The lack of certain transport molecules also prevents nutrient absorption, which causes a huge appetite. Cystic fibrosis was discovered in the s by the Bohemian pathologist Carl von Rokitansky, who made the first description of the disease as part of a report about a death of a fetus.

InDorothy Andersen M. In a group of parents founded the Cystic Fibrosis Foundation, which later became the National CF research Foundation in as well. In ,b The foundation created the Research Development Program, which is a network of research centers at top universities.

Inthe single most important discovery in cystic fibrosis research was made; the discovery of the CFTR gene in the human body, which led to scientists understanding cystic fibrosis at its most basic level.

With the knowledge of this gene, scientists could also, for the first time, synthesize a healthy version of the gene for research.

The first gene therapy for patients with cystic fibrosis occurred inwhich truly started further studies in CF gene therapy. Because cystic fibrosis helps to prevent the movement of salt and water in and out of cells, the lungs and pancreas begin to secrete thick mucus, which will eventually block passages within the body, eventually rendering the passageway useless from clogging.

As an example, mucus lines the membranes of many internal organs in order to protect the organ. Without the movement of the chloride ions, the mater and mucus cannot move out, causing a buildup of mucus. In the pancreas, these unusable passages prevent the secretion of the necessary digestive enzymes from the pancreas to the intestine, meaning that an inability to digest any kind of food, especially fats and proteins.

Another major symptom is being extremely underweight and malnourished. This is caused by the other symptom of not being able to digest foods and retain nutrients. In fact, this symptom of not being able to absorb nutrients or digest foods causes many other symptoms.

Diabetes is one of them. As damage to the pancreas from unusable protein channels increases, more and more insulin-producing pancreatic cells are destroyed, causing typediabetes from lack of insulin.

In the lungs, the production of the thick mucus also increases the likelihood of infection, so people with cystic fibrosis are known to have lungs with copious amounts of bacteria in them.

Other common symptoms include salty-tasting skin, loss of appetite, weight loss, fatigue, coughing, increased mucus in the lungs and sinuses, recurring episodes of pneumonia, inflammation of the pancreas, and infertility for men.

Related Essays

Because cystic fibrosis is a hereditary disease, different populations are more or less likely to have this mutation in the CFTR gene.

About one in every twenty-five Americans of European descent is a carrier of the gene, though possibly not infected fully with cystic fibrosis. One in every seventeen-thousand African Americans is a carrier of the mutated gene, and one in thirty-thousand Asian-Americans is a carrier.

Overall, the Caucasian race is most susceptible to having cystic fibrosis.

Cystic Fibrosis and Gene Therapy

The various treatments for cystic fibrosis have improved astronomically since the disease was first discovered. In the yearpatients with cystic fibrosis had a median or average life span of about ten years.

Treatment has developed to the point that the average age to which cystic fibrosis patients survive has been raised to forty-one years of age.

When cystic fibrosis was first discovered, there were no treatments available. Inwhen the CFTR gene was discovered, scientists were intrigued, and ingene therapy for cystic fibrosis patients began.

Since then, scientists have learned much more about how cystic fibrosis affects humans, and many different treatments have been developed to counter some of these symptoms.

Simple exercise is always good for patients with cystic fibrosis, because it will help to sweat out the excess salt that cannot get out of the body because of unusable protein channels. There are antibiotics to help prevent bacterial build-up in the lungs and sinuses.

An essay on cystic fibrosis and gene therapy

Pills have also been developed to thin mucus in order to prevent the extraneous buildup of mucus in the body. To solve problems of lack of nutrition or vitamins, injections can be arranged, of the nutrients themselves, or of enzymes that the pancreas naturally makes.A new partnership in the UK will develop a gene therapy for cystic fibrosis that could treat the disease with a single dose.

Cystic fibrosis is a genetic disease that causes mucus to build up in a patient’s lungs. As a result, patients suffer from blocked airways and bacterial infections. While. Causes of cystic fibrosis: Cystic fibrosis is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR), which serves an important function in creating sweat, mucus, and digestive juices.

Only one copy of this gene is needed to prevent cystic fibrosis, and most people have two copies. We funded the UK Gene Therapy Consortium (GTC) to develop a gene therapy product with the potential to 'correct' the faulty cystic fibrosis gene in the lungs.

The GTC announced results from the Phase 2B clinical trials of its Wave 1 gene therapy product in Gene therapy in cystic fibrosis The individual cistron mutant is a cystic fibrosis transmembrane regulator (CFTR), is located 7q, ,bp long, have 27 coding DNAs and protein has 1, aminoacids.

In July , the results of an eagerly anticipated clinical trial of gene therapy in cystic fibrosis were published (Alton et al., ).Cystic fibrosis is one of the most common genetic conditions in the world, and has always been at the forefront of gene therapy research. Essay about The Cystic Fibrosis Gene Words | 6 Pages.

The Cystic Fibrosis Gene Cystic fibrosis is an inherited autosomal recessive disease that exerts its main effects on the digestive system and the lungs. This disease is the most common lethal genetic disorder in Caucasians, affecting one out of 2,

Cystic Fibrosis - Essay