Term Paper: Cystic Fibrosis

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[. . .] The illness results when the gene - called the cystic fibrosis transmembrane conductance regulator (CFTR) gene - fails to make its normal protein product. The gene is unusually large, making a protein that consists of a chain of 1480 amino acids (Cooke, 1993). Normally, the protein folds up to form a pore-like duct that becomes part of a cell's outer membrane (Cooke, 1993). The number of mutations found on the gene has escalated in the past four years, Tsui said. So "we now have to make up our minds which mutations actually cause disease (Cooke, 1993)." "The most common mutation causes about 68% of all cystic fibrosis cases (Cooke, 1993). That mutation, called D508, is seen once in every 30 whites, and occurs when the amino acid that is supposed to be at position 508 is missing (Cooke, 1993). Most of the other mutations are quite rare and cause few cases of cystic fibrosis (Cooke, 1993). But one, called R117H, has turned out to be much more common than anticipated. It appears to sometimes cause cystic fibrosis, male sterility and perhaps chronic bronchitis and chronic sinusitis (Cooke, 1993). Cutting said that a recent screening test, run by the Kaiser-Permanente health maintenance organization in California, found that "R117H is nineteen times higher [more prevalent] than expected (Cooke, 1993)."

The genetic factor of the disease is an important one which gives rise to the therapies that are being currently tried. The genetic factor of cystic fibrosis has been an extremely complicated process to map out for the medical community. While scientists knew there were genetic components, which were directly responsible for the disease and its existence, they had a difficult time locating exactly where it fell on the genetic and DNA continuum of life (Santis, 2000). Because it was so difficult to locate the exact specifications for the disease scientists concentrated instead on identifying the protein that indicated Cystic fibrosis when it became abnormal. Chromosome I was examined as was genetic material that is located within saliva to no avail. The search continued to include cytogenetic studies as well as chromosomal abnormality studies in the effort to locate the genetic perpetrator of this deadly disease (Santis, 2000). He search moved to the brain and various glands of the body including the adrenal gland with no success.

The next step was to identify cloned fragments of DNA for conserved sequence and then determining several common factors of this sequence scientists were then able to isolate several genes as Cystic Fibrosis candidates (Santis, 2000).

Through testing of the various candidate genes the scientists discovered what was the most likely gene responsible for the Cystic Fibrosis gene. In addition there was a protein isolated that was later named the CPTR or the "Cystic Fibrosis Transmembrane Conductance Regulator (Santis, 2000)." A year later there was final proof obtained that the correct gene had been located and identified for the disease when the expression of the normal CFTR DNA in Cystic Fibrosis epithelial cells caused a correction of the chloride transport defect that is so typical of Cystic Fibrosis (Santis, 2000).

Once the correct gene and protein was determined the search for the exons moved forward. The initial phase of study uncovered 27 exons (Santis, 2000). Out of those 27 it was determined that number 13 was by far the largest (Santis, 2000). These discoveries led to the understanding of the genetic implications of the disease which opened the door to try and locate a gene based therapies for the maintenance of the disease as well.

Until recently the only treatments available for the disease were antibiotics and mucous thinners (Stanford, 2001). They did not do the job as well as doctors hoped that they would. Recent medical research breakthroughs have developed an inhalant that controls the patient's immune system response to infection (Stanford, 2001).

By administering the molecule as an inhalant, the researchers hope to confine its effect to immune cells in the lung and avoid adverse side effects associated with injections of the compound (Stanford, 2001). "

The life span of a cystic fibrosis patient has been lengthened, as has the quality of life for that patient. There was a time when the quality of life for a person with cystic fibrosis was extremely limited because of the problems the disease presented to the person who had it. Often times breathing issues prevented any real life quality while other things such as susceptibility to infection and the need to avoid those interfered with quality of life issue. Today, medical science has advanced enough that the life span expectancy has been doubled and the quality of life for those with the disease has improved tremendously. It is still however a very deadly disease. The life expectancy in the United States for a non-affected person is in the 70's. The life span of a person born with cystic fibrosis is usually around 33 years of age.

Other researchers have found that the severity of lung damage in cystic fibrosis patients correlates inversely with the amount of gamma interferon they produce - less gamma interferon means more damage (Stanford, 2001). "It's really one of the most important cytokines that the body uses to fight off infection," said Moss (Stanford, 2001). But gamma interferon's ability to affect cells throughout the body makes it difficult to restrict its activity when used clinically - especially when delivered by injection (Stanford, 2001). However, the nature of cystic fibrosis makes it possible to limit the effect of the molecule (Stanford, 2001). "When interferon is injected it has a moderate amount of toxicity throughout the body and it sometimes causes a flu-like reaction. However, cystic fibrosis patients inhale it directly into the lungs and it doesn't go into the rest of the body," Moss said. In preliminary tests, patients with tuberculosis and asthma tolerated the inhaled gamma interferon well, and there was little evidence that it was active in the bloodstream, he added (Stanford, 2001). Researchers hope gamma interferon will block the destructive cycle of infection and inflammation in the lungs of cystic fibrosis patients by simultaneously stimulating the infection-fighting properties of one type of immune cell (lung macrophages) and suppressing the activity of another (neutrophils) that cause airway inflammation and destruction (Stanford, 2001). Researchers at Stanford administered the first dose of gamma interferon less than three weeks ago. Eventually 60 cystic fibrosis patients at eight medical centers around the country will participate in the double-blinded, phase-II trial structured to test the safety and efficacy of gamma interferon (Stanford, 2001). Approximately one-third of the patients will receive a placebo, and the remaining two-thirds will be split into two groups to test two different dosages of gamma interferon. Patients will be treated three times per week over a period of three months, and researchers will monitor lung function as well as the extent and severity of infections (Stanford, 2001)."

One of the newest treatments being examined for cystic fibrosis involves the use of enzyme therapy. Research has been using restriction enzymes Hpall and Mispl for the purpose of therapy in research CF trials. There has been a measure of success as well as interesting findings regarding the use of these two enzymes in treatment possibilities.

CoQ1O, ubiquinone) Coenzyme Q10 is a lipid-soluble quinone present in every cell in the body. During intracellular respiration, CoQ10 collects reducing equivalents and is then converted to the reduced form, Coenzyme QH2. The immune-enhancing effects of supplemental CoQ10 include an increase in granulocyte proliferation, and an increase in overall macrophage activity (Folkers, 1992). The most interesting effects are a prolonged survival of mice infected with P. aeruginosa.61,62 This might be connected with the ability of CoQ1O to increase antioxidant protection in cell membranes, as well as to function at Golgi and plasma cell membrane sites in secretion-related membrane flow and growth control (Folkers, 1992).63 Via its antioxidant activity, CoQ10 also assists in recycling and sparing vitamin E64 Thus, in humans with CF, CoQ10 could prove to be an adjunct in the demanding treatment of P. aeruginosa infections and in better control of the inflammatory immune response. Suggested dosage of CoQ10 is 60 mg to 100 mg per day (Folkers, 1992)."

Gene treatment is designed to attack the root of the problem instead of just treating the symptoms as they arise. Gene therapy using enzymes is the most promising and exciting breakthrough in many years regarding the therapy for the disease. The therapy was originally tested in a lab when cloned genes were introduced to actual genes and the results were very promising (Gene, 2002).

The next landmark step was taken in the spring of 1993, when the first experimental dose of a gene therapy treatment was given to an individual with CF (Gene, 2002). This study was launched at the National Institutes of Health (NIH) and supported by the Cystic Fibrosis Foundation. It marked the first time that scientists were able to test the… [END OF PREVIEW]

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