Antioxidant Found in Vegetables Has Implications for Treating Cystic Fibrosis Nov 21, 2009
For over a decade Lu and colleagues have been exploring the inner workings of ion channels and how this knowledge relates to the pathology of such diseases as CF. The CF disease originates from mutations in the CF transmembrane conductance regulator (CFTR) protein, an ion channel protein in the cell membrane commonly thought to transport mainly chloride ions ... Although known as a chloride channel, CFTR also conducts thiocyanate ions, important because, in several ways, they can limit... (Science Daily)
Vasculature Emerges As Potential Therapeutic Target In Treating ADPKD Liver Cysts Oct 1, 2009
6, 2008) A family of small molecules called CFTR inhibitors show promising effects in slowing the progression of polycystic kidney disease, the most common genetic disease of the kidneys. Patients with PKD. (Science Daily)
Gene Variant Heightens Risk Of Severe Liver Disease In Cystic Fibrosis Sep 11, 2009
In the disease, defects in the CFTR gene cause the lungs, intestines and pancreas to become clogged with mucus, resulting in breathing problems and other difficulties. Though every patient with cystic fibrosis carries mutations in both copies of their CFTR gene (one inherited from the mother and one from the father), symptoms can vary widely from patient to patient ... For the last decade, researchers have been investigating what other genetic factors might modify the effects of the... (Science Daily)
A Man with Cystic Fibrosis with Abdominal Pain and Distention Aug 20, 2009
Cystic fibrosis had been diagnosed at birth, and he was homozygous for the F508 mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR). He had been hospitalized at least annually for complications of the disease, most recently 1 year earlier because of pneumonia caused by Pseudomonas aeruginosa and methicillin-resistant Staphylococcus aureus. (New England Journal of Medicine)
Mutation Responsible For Cystic Fibrosis Also Involved In Muscle Atrophy Aug 2, 2009
However, a recent study by Dr. Basil Petrof reverses the equation: his results show that muscle atrophy and weakness may be a primary symptom caused by the effects of CFTR gene mutations on the muscle itself ... Cystic fibrosis is known to be caused by a specific mutation on the CFTR gene ... Dr. Petrof's study demonstrates for the first time that the CFTR gene is also present in skeletal muscles, where it plays a role in calcium regulation. (Science Daily)
Common Cold Virus Efficiently Delivers Corrected Gene To Cystic Fibrosis Cells Jul 23, 2009
Using parainfluenza virus, one of the viruses that causes common colds, the UNC scientists found that delivery of a corrected version of the CFTR gene to 25 percent of cells grown in a tissue culture model that resembles the lining of the human airways was sufficient to restore normal function back to the tissue ... "We discovered that if you take a virus that has evolved to infect the human airways, and you engineer a normal CFTR gene into it, you can use this virus to correct all of the... (Science Daily)
Promising research: Pigs on cutting edge of treating, curing hereditary diseases Jul 5, 2009
" Swart said human and pig CFTR genes -- a defective pair of which cause the disease -- are 94 percent similar. And the human immune system is much closer to that of a pig than that of a mouse. That means a therapy that works in pigs is much more likely to work in humans. By contrast, he said, 90 percent of therapies that work in mice fail in humans."This is what gets us excited every day," Arends said. "Most researchers have a focus ... "He said Exemplar is currently working with separate... (Sioux City Journal)
DNA suit pits patients against patents May 14, 2009
On the other hand, the company that owns the patent to the gene CFTR, which has been linked to cystic fibrosis, has licensed the testing to dozens of laboratories, drawing praise from the medical world. The decision to allow gene patents was controversial from the start; patents are normally not granted for products of nature or laws of nature. (MSNBC -- Health)
Changes In Gene May Stunt Lung Development In Children Apr 1, 2009
25, 2008) Although it is known that mutations in the CFTR gene cause the hereditary disorder cystic fibrosis disease, variations in other genes between individuals with CF modify the severity of the disease. (Jan. (Science Daily)
Scientists find gene that modifies severity of cystic fibrosis lung disease Mar 4, 2009
Although it's been known for 20 years that cystic fibrosis is caused by mutations in the CFTR gene, the molecular mechanisms that link these mutations to the generation of lung disease still remain unclear ... The defect in the CFTR gene causes the body to produce unusually thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections. (EurekAlert!)
Study Pinpoints New Gene for Cystic Fibrosis Feb 27, 2009
Researchers have long known that mutations in the gene CFTR were associated with cystic fibrosis, but were unable to account for the spectrum of lung disease severity that accompanies the disease ... Of the six genetic variations that emerged, the most promising was IFRD1, which coincidentally is located relatively close to the CFTR gene ... "This is an interesting finding that might explain why some CF patients have more severe lung deterioration than matched CF [patients] with the same [CFTR]... (MEDLINEplus)
Gene modifies lung disease impact Feb 26, 2009
It has been known for 20 years that cystic fibrosis is caused by mutations in a gene called CFTR. ... " A UK Cystic Fibrosis Gene Therapy Consortium spokesperson said it had been long suspected that genes other than CFTR played a role in determining the severity of cystic fibrosis. "The result is important because it confirms the importance of other genes in modulating cystic fibrosis lung disease and implies that therapies aimed at modulating neutrophil function would have a beneficial effect... (BBC News -- Health)
Boosting its infectivity turns benign virus into good gene therapy carrier for cystic fibrosis Feb 17, 2009
The main problem in CF is a mutation in the CFTR (cystic fibrosis transmembrane conductance regulator) gene that results in a defective chloride ion channel in the body's cells ... According to Schaffer, previous attempts to deliver a normal CFTR gene to lung cells by means of a virus failed either because the immune system mopped up the virus before it had a chance to deliver its cargo, as was the case with adenovirus; or because the virus was inefficient at delivering the gene to cells, the... (EurekAlert!)
JCI online early table of contents: Feb. 16, 2009 Feb 17, 2009
GASTROENTEROLOGY: Modulating the function of CFTR, the protein defective in cystic fibrosis. Ursula Seidler and colleagues, at Hannover Medical School, Germany, have provided new insight into the in vivo function of three proteins that interact with CFTR, the protein that is nonfunctional in individuals with cystic fibrosis, by analyzing the functional status of CFTR in the small intestine of mice lacking these proteins ... In the study, changes in CFTR-dependent secretion of HCO3 in the small... (EurekAlert!)
Cystic fibrosis gene cure closer Feb 17, 2009
In the future it is hoped that gene therapy will provide a cure by replacing the defective CF gene which disables or destroys a protein known as CFTR. ... Lead researcher Professor David Schaffer said: "In human lung tissue, it completely rescued the chloride ion transport properties of the cells after delivering the correct copy of the CFTR gene to replace the mutated copy of the gene that is present in CF patients.". (BBC News -- Health)
'Nonsense' In Our Genes: One In 200 Human Genes Superfluous? Feb 7, 2009
Nonsense' In Our Genes: One In 200 Human Genes Superfluous. Nonsense' In Our Genes: One In 200 Human Genes Superfluous. (Science Daily)
Estrogen May Explain Why Women with Cystic Fibrosis Suffer More Feb 7, 2009
People with cystic fibrosis have mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which reduces the ability of chloride ions to travel across cell membranes, the researchers said. Chloride helps hydrate the lungs by bringing water along with it, basically to hydrate the mucous so that mucous keeps moving through the airways, taking disease-causing bacteria and other organisms with it. (MEDLINEplus)
Hope For Preventative Treatment For Cystic Fibrosis Lung Disease Feb 7, 2009
The cause of all symptoms of cystic fibrosis are defects at a certain locations in the genetic makeup a mutation in what is called the CFTR ("Cystic Fibrosis Transmembrane Conductance Regulator" gene) leads to loss of salt and water and thus dehydration of the surfaces of the mucous membranes in the lungs, intestines, and other organs. Thick, sticky mucus forms clumps that cannot be easily cleared. (Science Daily)
