Gene that Causes Cystic Fibrosis Disease

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It is estimated that 1 in every 201 Caucasian individuals in Europe possess a fatal defective gene for cystic fibrosis (CF) or mucoviscidosis. Despite not displaying any symptoms, these carriers contribute to the population of 10 million people who unknowingly carry the faulty gene. Due to its prevalence, this condition is considered one of the most widespread genetic defects in the United States.

The autosomal recessive gene CF can occur in any generation. To inherit this disease, both parents must possess the gene. If one parent has CF and the other is not a carrier, their offspring will become a carrier. If one parent has CF and the other is a carrier, there is an equal 50% chance of the child having CF or becoming a carrier. When both parents are carriers, their child has an equal 25% chance of having CF, a 50% chance of becoming a carrier, and a 25% chance of being unaffected. Both males and females have an equal susceptibility to CF; there is no specific gender where it is more prevalent.

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How can someone determine if they have CF? There are several indicators of this fatal illness, such as having a salty taste on the skin, persistent coughing, excessive mucus production, difficulty in gaining weight, regular occurrence of greasy and unpleasant-smelling bowel movements, presence of nasal polyps (growths in the nose), and swollen or enlarged fingertips and toe tips. Nowadays, numerous tests are available to diagnose CF.

There are multiple methods for detecting cystic fibrosis (CF). Symptoms can be observed as a way to diagnose CF, as many individuals with the condition typically exhibit symptoms. However, not all symptoms are required for diagnosis. Another approach involves genetic testing, which was previously inaccessible but is now feasible. In 1989, Francis S. Collins from the University of Michigan identified the specific location of the faulty gene on chromosome number 7. Tests like amniocentesis, chronic villus biopsy, and embryo cell removal during invitro procedures can now ascertain whether an unborn baby has CF.

Many years ago, there was a heat wave in New York4, resulting in overwhelmed hospitals with dehydrated CF children. These children experienced dehydration at a faster rate than those without the disorder, leading to the development of the sweat test as the standard diagnostic tool. During the test, doctors apply a pad or filter paper to the patient’s arm or back. A chemical known as Pilocarpine stimulates an electric response to generate more sweat. The pad is then sealed in plastic and sent to a laboratory for analysis. The doctors examine the sweat sample for a high chloride content. Another test, called Immunoreactive Trypsinogen5, is administered three days after birth through a blood test. A positive result prompts confirmation through a sweat test.

Furthermore, Cystic Fibrosis (CF) leads to an increased release of salt from the sweat glands. In fact, CF patients excrete approximately 5 to 6 times more salt compared to a person without CF. Consequently, the skin of CF patients may have a salty flavor. It is important to note that CF patients do not perspire more, but rather excrete more salt when they sweat. Consequently, this excessive loss of salt can result in dehydration.

CF, or cystic fibrosis, is a condition where the body produces an excessive amount of mucus. Unlike non-CF individuals who use mucus to expel germs and bacteria from their airways, CF patients face the issue of having thick and sticky mucus build-up in their lungs. This accumulation blocks the elimination process and increases the chances of bacterial infection. Over time, these infections result in significant lung damage and ultimately lead to respiratory failure.

Cystic Fibrosis (CF) affects the digestive tract by causing an excess production of mucus, which can block the pancreatic ducts. This leads to a deficiency of enzymes necessary for breaking down fats and proteins, resulting in weight loss among CF patients. Furthermore, undigested fats and proteins are expelled from the body, leading to bowel movements with a foul smell. Sadly, some individuals, especially children, may suffer from malnutrition due to CF. Additionally, people with cystic fibrosis have a higher susceptibility to developing cancer in their digestive tracts. This is likely due to elevated levels of the CFTR protein in their digestive tissues. Doctors attribute this increased risk to changes induced by CF in the organs of the digestive tract that can impact cell turnover. Therefore, patients experiencing gastrointestinal issues should undergo examinations to detect any tumors.

Women with CF rarely have children due to the health risks involved. The mucus in their reproductive system hinders sperm from reaching the uterus and fallopian tubes, making conception difficult. It is worth noting that nearly all men with CF (about 98%) are infertile because their vas deferens, which transports sperm, is obstructed. Ongoing research suggests that sterile men may have a variant of CF that primarily affects their digestive system and lungs.

There is a wide variety of drugs currently available and in development for treating various conditions. The choice of treatment depends on the affected organs. In December of ’93, the Food and Drug Administration gave approval to Pulmozyme®, a mucus-thinning drug, marking the first new drug therapy in 30 years. Pulmozyme® has proven effective in reducing respiratory infections and improving lung function.

Another treatment option involves postural drainage or thumps, where cupped hands are used to hit the patient’s back and chest to loosen mucus for easier coughing. Antibiotics can also be used to treat lung infections, while medicated vapors can be inhaled to clear clogged airways.

In cases where mucus causes digestion issues in the intestines, enzyme supplements are employed. These supplements assist with digestion problems caused by mucus and enable patients to resume a normal diet. Nevertheless, it’s important to note that these supplements have a high concentration of enzymes which may cause pancreas deterioration potentially leading to diabetes. Despite this risk, CF patients can still consume regular food thanks to these supplements.

Multiple studies have shown that ibuprofen, including brands such as Advil, Motrin IB, and Nuprin, can protect the lungs of children with cystic fibrosis (CF). These trials involved 85 patients ranging from 5 to 39 years old, all of whom had a FEV1 equal to or greater than 60%. The results indicated that individuals who took ibuprofen experienced a slower decline in their FEV1. This effect was especially noticeable in patients under the age of 13 who consistently used ibuprofen for four years. The dosage of ibuprofen varied between 50 and 100µg/mL as these levels are essential for achieving the desired anti-neutrophil effects. Despite some side effects like conjunctivitis without a known cause and epistaxis due to ibuprofen’s anti-platelet action, doctors recommend continuing medication use while taking antacids containing magnesium and aluminum instead of calcium-containing ones to alleviate stomach pains. A significant breakthrough occurred in 1990 when two research teams successfully corrected CF cells in a petri dish. Then, in 1993, the first experimental gene therapy dose was administered to a human patient, marking a major milestone. Additionally, scientists at the University of Iowa demonstrated in October of that same year that CF gene treatment effectively repaired defective CF cells.The significant milestone achieved in recognizing and addressing the underlying problem faced by individuals affected by this disease paved the way for scientists to experiment with innovative technologies on patients. This breakthrough is notable as it allows for exploring new approaches towards tackling the illness.

Doctors and scientists have identified gene number 7 as the location of cystic fibrosis (CF), which they named cystic fibrosis transmembrane conductance regulator (CFTR). This protein is believed to regulate chloride movement directly or indirectly. In their research, doctors and scientists also discovered an abnormality in approximately 70% of CF cases known as the AF508 mutation. This mutation occurs when three nucleotides are deleted from the gene, causing the protein to lack phenylalanine at position 508. Efforts are underway to target and correct this gene mutation through approaches like gene therapy, where healthy CFTR genes are administered to patients. The goal is for these injected genes to help cells produce normal CFTR protein and ultimately eradicate cystic fibrosis.

Doctors utilize various methods, such as viruses, fat capsules, and synthetic vectors, to transport “good genes” into the body. These delivery vehicles are administered through the nose or bronchial tubes. Currently, there are nine ongoing human gene therapy research studies. Among these studies, six focus on delivering healthy genes to the lungs or nose using these “delivery vans”. One study involves administering repeated doses of CF gene therapy treatment to the lungs while others administer repeated doses to nasal tissue. Additional studies utilize fat capsules for delivery and one even transforms them into an aerosol form for inhalation. Another approach involves inserting the good genes into adeno-associated viruses (AAV) in order to introduce them specifically targeting the lungs in one particular study. Approximately ninety individuals with cystic fibrosis (CF) have undergone some form of gene therapy. According to David Porteous of Edinburgh University’s Medical Research Council’s Human Genetics Units, although finding a cure for CF is still far away, progress is being made in the right direction. Recently, Aradigm has been awarded a grant which holds potential in contributing towards developing a more effective delivery vector. Igor Gonda, Aradigm’s VP of research and development believes that combining gene therapy with their AERx delivery system could yield versatile technology for delivering genes and oligonucleotides to the respiratory tract.The potential of this advancement is to treat a range of diseases, including respiratory infections, lung cancer, emphysema, asthma, and cystic fibrosis.

Cystic fibrosis, a genetic disorder that affects individuals, their families, and friends, has witnessed an improvement in median survival rates due to advancements in medicine. In the 1950s, the average age of survival was merely 8 years old; however, by the late 1990s, it had risen to 30 years old17. Regrettably, not everyone could access these new treatments and breakthroughs early enough. One individual who did not benefit from them was Alex Deford. At the age of 8, she tragically passed away. Her father, Frank Deford, authored a book recounting their struggles with skeptical doctors who doubted a dying child’s account of a collapsed lung and cystic fibrosis itself. It is common for parents to feel responsible for passing on faulty genes associated with genetic disorders like cystic fibrosis. In Alex’s situation, her initial sweat test yielded false negative results; however,this occurred in the early 1970s when sweat tests were less precise and more prone to errors compared to modern standards.

Cystic fibrosis, a relentless disease resulting in death from CF complications, affects around 30,00018 children and adults. The recent identification of the CF gene presents opportunities for new medications and treatments. As a result, it may be possible to completely eradicate cystic fibrosis in the future. This progress could potentially render current painful therapies unnecessary, sparing individuals with CF from unnecessary suffering. Frank Deford raises concerns about subjecting his sick child to distressing chest physiotherapy and questions its effectiveness.

“About Cystic Fibrosis.” March 11, 1997. Internet.

The webpage named “AKL And Cystic Fibrosis” can be found at I came across this website online on March 11, 1997.

According to a news article from March 10, 1997, the National Institutes of Health has granted funding to Aradigm. The source for this information is a press release on Yahoo News. You can access the press release by visiting the following URL: source of the information is a web page called “British Team Close to Cystic Fibrosis Gene Therapy”, which can be found at The article was published on March 4, 1997, on the internet.

The website CF Ibuprofen Lab offered general information for physicians on April 7, 1997. The information is available at on the Internet.

The website “Cystic Fibrosis” can be found at It was accessed on November 27, 1995 via the internet.

The book “Alex: The Life of a Child” was written by Frank Deford and published in 1983 by The Viking Press in New York.

According to the Internet source “Facts about cystic fibrosis” on September 21, 1996, available at

The webpage “Gene Therapy” can be found at and was accessed on September 21, 1996 via the internet.The internet source “How is CF Diagnosed?” provides information on diagnosing CF. The webpage can be accessed at and was last updated on March 12, 1996.The website “Medical Complications of Cystic Fibrosis” provides information about the medical complications associated with cystic fibrosis. The link to the website is and it was accessed on March 11, 1997 via the internet.

The New England Journal of Medicine published a study titled “The Risk of Cancer Among Patients with Cystic Fibrosis” in 1995. The research, conducted by Joseph P. Neglia, Stacey C. FitzSimmons, Patrick Maisonneuve, Martin H. Schoni, Franzisca Schoni-Affolter, Mary Corey, and Albert B. Lowenfels, aimed to investigate the potential cancer risk among individuals diagnosed with cystic fibrosis.

The webpage “Progress in Cystic Fibrosis Research” on http://www.cfforg/progress.htm, accessed on November 8, 1996, offers information about the developments in this area of study.The article “Ibuprofen Stalls Advance of Cystic Fibrosis” by Janet Raloff was published in Science News 147.13 in 1995.

Ramsey, Bonnie W. “Management of Pulmonary Disease in Patients with Cystic Fibrosis.” The New England Journal of Medicine 335.3 (1996): 179-189.

Silverstein, Alvin, Virgina Silverstein, and Robert Silverstein. Cystic Fibrosis. Chicago: Franklin Watts, 1994.

The internet source “What is CF?” can be accessed at, as of July 17, 1996.The internet source “Why Does Someone Get CF?” was accessed on March 12, 1996 from

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