Clearing the airways in cystic fibrosis Aug 29, 2008
e., mutant) CFTR proteins made by airway epithelial cells could actually be beneficial if they were allowed to reach their final destination at cell surfaces ... In airway epithelial cells taken from CF patients, the "distracted" airway cells allowed the complete {DELTA}F508 CFTR protein to evade the quality control mechanisms that would have normally destroyed it. (EurekAlert!)
New Drug Shows Promise in Cystic Fibrosis Aug 26, 2008
Cystic fibrosis -- a disease in which the body produces a thicker-than-normal mucus that clogs the lungs and other organs -- is caused by mutations in the cystic fibrosis transmembrane-conductance regulator (CFTR) gene ... PTC124, which is given by mouth, is one of a number of experimental drugs in development to correct CFTR defects. (MEDLINEplus)
Molecular Clues To Wilson Disease: How Mutation Alters Key Protein Aug 22, 2008
22, 2007) Individuals with the genetic lung disorder cystic fibrosis (CF) lack any functional CFTR protein because their genes that encode this protein carry a mutation. One mutation (the W1282X mutation) that. (Science Daily)
What killed 19th century composer Frederic Chopin? Jul 30, 2008
But believing his symptoms were more typical of cystic fibrosis, Polish medical experts requested permission to run DNA tests on his heart - preserved in alcohol - aimed at isolating the CFTR gene marking the disease. "The refusal was preceded by broad consultations with specialists in genetics, the artistic and scientific community focused on the work and person of Frederic Chopin, as well as the church," Mr. Szymanski said, adding that two of Chopin's living relatives disagreed over the... (Globe and Mail -- International)
Genzyme Pays Up For Anti-Nonsense Drug Jul 18, 2008
Thus the set of instructions to produce cystic fibrosis transmembrane conductance regulator (CFTR) or dystrophin isn't read in full; this causes the body to produce a defective form that is too short to do its job ... In cystic fibrosis, the defects occur in a gene for CFTR, which is important for moving ions across the lungs and in the digestive system. (Forbes -- Business)
In Poland, Chopin's heart may hold secret of his death Jun 22, 2008
Their request to Poland's culture ministry for tissue samples to check for the CFTR gene marking cystic fibrosis sufferers has, however, sparked mixed feelings over the prospect of picking over a national icon. "For where your treasure is, there your heart will be also," reads the biblical passage inscribed on a pillar in Warsaw's sprawling and ornate baroque Church of the Holy Cross. (Yahoo! Asia News)
New Role Of Inflammatory Protein In Polycycstic Kidney Disease Identified, Could Lead To Treatment Jun 20, 2008
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)
Insights Into Lung Disease And Lung Function In Young Adults May 25, 2008
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. (Jun. (Science Daily)
What Causes Cystic Fibrosis May 22, 2008
Cystic fibrosis (CF) is an inherited disorder caused by a defect in the CFTR gene ... CF is caused by a defect in the CFTR gene ... Cystic fibrosis is caused by a defect in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (Suite101.com)
OneWorld teams with Roche for diarrhea cure Apr 17, 2008
A protein known as CFTR throws those tiny channels wide open to an influx of fluids, so the group will look for inhibitors of CFTR.. OneWorld Health was founded in 2000 by Victoria Hale, a pharmaceutical chemist trained at UCSF who formerly worked at Genentech Inc. in South San Francisco. (San Francisco Chronicle -- Business)
Experiments Point To New Treatments For PKD Apr 7, 2008
6, 2008) A family of small molecules called CFTR inhibitors show promising effects in slowing the progression of polycystic kidney disease (PKD), the most common genetic disease of the kidneys, according to preliminary research reported in the July 2008 issue of the Journal of the American Society Nephrology ... Although much more study is needed, CFTR inhibitors could provide a useful new approach for the treatment of PKD. "The CFTR inhibitors could be the basis of a lifelong treatment to slow... (Science Daily)
Elavil for Cystic Fibrosis? Apr 1, 2008
The cystic-fibrosis mutation disables a gene called CFTR (cystic fibrosis transmembrane conductance regulator). Researchers Erich Gulbins, MD, PhD, of Germany's University of Duisburg-Essen and colleagues now find that CFTR dysfunction upsets a delicate chemical balance in the lungs ... Gulbins' team showed that this happens in mice lacking the CFTR gene. (WebMD)
Cystic Fibrosis Foundation Announces Positive Early Results For New Drug Mar 29, 2008
The findings suggest that VX-770 improves function of what is known as the faulty CFTR protein. This early data is promising and could have important implications for studies of other drugs in development. (Science Daily)
Cystic Fibrosis Pill Shows Promise Mar 28, 2008
The findings suggest that the drug improves the function of the faulty CFTR protein. Cystic fibrosis is a genetic disease that affects nearly 70,000 people worldwide. (Click2Houston, TX)
Computer simulations point to key molecular basis of cystic fibrosis Mar 1, 2008
Cystic fibrosis (CF) is a fatal disease caused by a defective gene that produces a misshapen form of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. People with cystic fibrosis do not have enough CFTR for their cells to work normally because their bodies quickly destroy the mutant protein ... The deletion of this protein specifically occurs in a major domain of CFTR called NBD1. (EurekAlert!)
Deficiency In The Protein MBL2 Linked To Increased Cystic Fibrosis Severity Feb 26, 2008
Although it is known that mutations in the CFTR gene cause the disease, variations in other genes between individuals with CF modify the severity of the disease ... 22, 2007) Cystic fibrosis is an inherited disease caused by mutations in the CFTR gene. (Science Daily)
Peptide Discovered In Scorpion Venom May Hold Key To Secretory Diseases Feb 19, 2008
The lack of water flow stems from a problem in a chloride channel called the cystic fibrosis transmembrane conductance regulator (CFTR) protein. In individuals with cystic fibrosis, the CFTR protein is mutated, often with one or more amino acids deleted, and consequently misfolded ... In the most common CFTR mutation leading to cystic fibrosis, the location of the deletion causes the chaperone proteins -- which are responsible for quality assurance within cells -- to bind to the misfolded... (Science Daily)
Bone complications due to cystic fibrosis have a genetic cause, according to an MUHC study Feb 8, 2008
It is thought to be a consequence of the mutation of the Cftr gene, the gene responsible for cystic fibrosis, of the pancreatic disease associated with cystic fibrosis and of the treatment with steroids to facilitate breathing. The study showed that mice with a Cftr gene mutation have a bone mineral density and bone mass that are significantly lower than those of control mice ... This conclusion clearly defines cystic-fibrosis-related bone problems as an additional pathology stemming from the... (EurekAlert!)
Secondhand Smoke Worsens Lung Function in Cystic Fibrosis Patients Jan 30, 2008
The researchers also found that certain mutations in the CF-causing gene (CFTR) determine the degree of effect that secondhand smoke has on lung function in CF patients. The study is published in the Jan. 30 issue of the Journal of the American Medical Association. (Health-Finder)
Will Rogers Institute to Honor World's Leading Geneticist and Recent Medal of Freedom Recipient, Dr. Francis S. Collins For His Outstanding Contribution to Lung Research. Nov 28, 2007
Dr. Collins' seminal research led to the identification of the CF gene and its protein product, CFTR. Mutation of the gene results in CF, a chronic disease which attacks the lungs and other organs. It is estimated that 30,000 children and adults in the United States struggle with cystic fibrosis. (PR Newswire)
Lung Transplantation in Cystic Fibrosis — Primum Non Nocere? Nov 22, 2007
The cystic fibrosis gene codes for the cystic fibrosis transmembrane regulator (CFTR) protein, a chloride channel that controls chloride and, indirectly, sodium transport across epithelial cells. When CFTR function is lost, excess sodium and chloride are resorbed from the airway lumen, leading to dehydration of the luminal contents and increased fluid viscosity of the airway lining. (New England Journal of Medicine)
Large genomic rearrangements in the CFTR gene contribute to CBAVD Apr 21, 2007
By performing extensive scanning of whole coding and flanking sequences of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, we had previously identified point mutations in 167 out of 182 (91 ... In this study, we looked for large rearrangements within the whole CFTR locus in the 32 CBAVD patients with only one or no mutation ... 4443+3143del9454ins5) removing exons 25 to 27 (exons 22 to 24 according to the previous nomenclature) in two males carrying a typical CBAVD mutation... (BioMed Central)
Cystic Fibrosis Treatment: New Study On Lung-infecting Bacterial Enzyme Suggests New Approach Apr 20, 2007
The research, conducted by Zhe Lu, MD, PhD; Yajamana Ramu, PhD; and Yanping Xu, MD, PhD, of the Department of Physiology, shows that the bacterial enzyme, called sphingomyelinase (SMase), disables a protein in lungs called CFTR, for cystic fibrosis transmembrane conductance regulator ... In healthy lungs, CFTR allows the passage of chloride ions (and accompanying water) into airways, creating a thin layer of fluid to keep airways clear ... However, SMase, secreted by certain respiratory tract... (Science Daily)
Technology Reveals 'Lock And Key' Proteins Behind Diseases Apr 14, 2007
One of the best known ABC transporters is the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR), which, when disabled by mutation, causes cystic fibrosis, a hereditary disease that results in progressive disability and early death ... Using iMYTH, the Stagljar lab identified six proteins that interact with and presumably communicate with the ABC transporter Ycf1p, a yeast version of the human proteins CFTR and MRP. These newly discovered protein interactors represent novel potential... (Science Daily)
Antibiotics can suppress CF mutations Apr 5, 2007
Cystic fibrosis (CF) is caused by mutations in the gene encoding for the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, which acts as a chloride channel activated by cyclic AMP (cAMP) ... g. gentamycin) suppress nonsense mutations located in CFTR permitting translation to continue to the normal termination of the transcript ... Pharmacologic suppression of stop mutations within the CFTR may be of benefit to a significant number of patients. (BioMed Central)
New Clues To Gene Expression In Cystic Fibrosis Mar 31, 2007
Cystic fibrosis is caused by mutations in the gene that encodes the Cystic Fibrosis Transmemrane Conductance Regulator (CFTR) protein ... Gentamicin reversed stop codons in the Y122X gene, and helped restore the CFTR protein, improving patients' respiration. (Science Daily)
Filamins Tether Cystic Fibrosis Protein To Cell Surface Jan 20, 2007
Cystic fibrosis (CF) is caused by mutations in a gene that encodes a protein known as CFTR. More than 1000 different disease-causing mutations in CFTR have been identified, and although the overall effect of each mutation is to decrease CFTR expression at the cell surface, it is not known for every one of these mutations what the molecular defect is that causes the decreased cell surface expression of CFTR.. Now, researchers from the University of North Carolina at Chapel Hill have shown that... (Science Daily)
Ethnicity tied to gene expression Jan 10, 2007
L.C. Tsui et al., "Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium," Human Mutation, 1992. B.H. Paw et al., "Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program," American Journal of Human Genetics, October 1990. (The Scientist)
Genomic Variation Easier To Identify With 'Microinversions' Software Dec 31, 2006
They chose a small region of the mammalian genome, called the CFTR region, for study. The scientists chose the CFTR region because it is well studied and widely shared among mammals. (Science Daily)
Software, Evolution And Micro-inversions: Improving The Building Of Phylogenetic Trees Dec 22, 2006
With InvChecker, the researchers analyzed the CFTR region in a collection of mammal species. CFTR is a heavily studied and highly conserved, gene rich area of human chromosome 7 that is home to the cystic fibrosis gene. (Science Daily)
A 2 test could have saved us from agony Dec 5, 2006
Cystic fibrosis is caused by a single faulty gene - the cystic fibrosis transmembrane conductance regulator, or CFTR gene. This makes a protein which transports salt and water in and out of the cells that line the lungs and digestive system. (Daily Mail - UK)
Drug makes cells ignore mutation Nov 10, 2006
The drug, which can be ta 00000564 ken orally, improved the function of a protein known as CFTR in a subset of patients with cystic fibrosis. CFTR transports chloride ions across cell membranes, maintaining the right level of hydration in tissues such as the lungs and pancreas ... In some cystic-fibrosis patients, the instructions for the CFTR protein contain a stop codon in their middle. (Nature News Service)
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Vertex: A Promising Hep-C Play Oct 10, 2006
VX-770 is an oral CFTR potentiator for the treatment of cystic fibrosis. It is a small molecule compound that targets the cystic fibrosis transmembrane regulator (CFTR) protein that is defective in patients with cystic fibrosis. (BusinessWeek)
Emory Scientists Develop New Map Of Genetic Variation In Human Genome Aug 12, 2006
For example, cystic fibrosis is frequently caused by a three-base-pair deletion in the CFTR gene, and DNA insertions called triplet repeat expansions are implicated in fragile X syndrome and Huntington's disease. Transposon insertions have been identified in hemophilia, muscular dystrophy and cancer. (Science Daily)
Study reveals how cells destroy faulty proteins in cystic fibrosis Aug 11, 2006
Cystic fibrosis (CF) is a fatal disease caused by a defective gene that produces a misshapen form of the protein cystic fibrosis transmembrane conductance regulator (CFTR). People with cystic fibrosis do not have enough CFTR for their cells to work normally because their bodies quickly destroy the mutant protein ... "Most cases of CF are caused by the inability of faulty CFTR to get in the correct shape, which leads cells to place it in the trash bin," said senior author Dr. Douglas Cyr,... (EurekAlert!)
Napo Pharmaceuticals, Inc. Receives Approval From Indian Regulator to Initiate Phase II Clinical Trial for Crofelemer for Acute Infectious Diarrhea in Adult Patients Aug 3, 2006
"We are delighted that the DCGI has approved initiation of this Phase II clinical trial, which will evaluate crofelemer for treating acute infectious diarrhea (CRO-ID)," said Ms. Lisa Conte, Chief Executive Officer of Napo Pharmaceuticals Inc. "We are advancing our pipeline according to schedule and look forward to furthering the development of this important compound. The impact that CRO-ID will have against various causes of infectious diarrhea, many of which are demonstrating resistance to... (PR Newswire)
Napo Pharmaceuticals, Inc. Admitted to Trading on the Main Market of the London Stock Exchange Jul 31, 2006
Pediatric diarrhea -- Phase 1 -- FDA has granted fast-track status for AIDS diarrhea and IBS products -- Napo has accumulated extensive safety data on more than 1500 patients across all indications -- Napo's global business model utilizes multiple corporate partners covering all four clinical indications in all countries -- Commercial focus on both Western markets and emerging economy populations for large product volume and financial return -- Crofelemer is sustainably harvested from a medical... (PR Newswire)
Protein link in study of diseases Jul 25, 2006
Dr Mehta's research team studied the relationship between three cancer-related enzymes associated with diabetes (NDPK), fat metabolism (AMPK) and cystic fibrosis (CFTR). They discovered a new pathway between the cancer and fat metabolism enzymes, which they have dubbed the "fat controller". (BBC News -- Health)
Johns Hopkins Lab Scientists Tame Overactive Cystic Fibrosis Protein Jul 1, 2006
In people with CF, defects in genes for a protein called CFTR (cystic fibrosis transmembrane regulator) interrupt the transport chemistry. Until now, researchers had not identified the precise search-and-destroy proteins that ERAD deploys to seek out the mutant CFTR. ... We were able to confirm that to get rid of the defective CFTR protein, cells deploy VCP/p97 protein, which latches onto the damaged CFTR and sends it to the proteasome for destruction, Zeitlin says. (Science Daily)
Vertex Pharmaceuticals Initiates Phase I Development for VX-770 in Cystic Fibrosis May 17, 2006
VX-770 may act to restore the function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, the defective cell membrane protein responsible for the progression of CF. Defects in the CFTR protein affect the transport of chloride and other ions across cells, and lead to the accumulation of thick, sticky mucus in the lungs of patients with CF. This mucus fosters chronic infection and inflammation, and results in irreversible lung damage. Potentiator compounds such as VX-770... (Canada Newswire)
Tm Bioscience reports first quarter 2006 results May 15, 2006
In the fourth quarter of 2005, LabCorp adopted the Tag-It(TM) reagents, which LabCorp has commercialized into an expanded panel for testing 70 mutations in the CFTR gene to supplement a competing product they offer. LabCorp has seen significant growth in the use of Tag-It(TM) reagents since that time. (Canada Newswire)
Scientists Discover Basic Defect In Cystic Fibrosis Airway Glands Mar 19, 2006
The disorder results from mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR), a membrane channel regulator essential for proper salt and water movement across some epithelia ... The first is that the defective CFTR is unable to aid in fluid secretion in cystic fibrosis airway glands ... The second explanation is that the glands still secrete fluid via non-CFTR pathways, but the fluid is reabsorbed by other channels. (Science Daily)
Common food preservative might provide treatment for cystic fibrosis Jan 27, 2006
Cystic fibrosis, which affects about 30,000 people in the United States, mostly Caucasians of north European origin, is an inherited disease caused by a defect in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). Affecting the airways and many other vital organs and processes, cystic fibrosis is chronic, progressive and ultimately fatal, mostly as a result of respiratory failure. (EurekAlert!)
Researchers Find Effective, Cheap Treatment For Cystic Fibrosis Lung Disease Jan 26, 2006
" Cystic fibrosis appears on average in one of four children of parents who both carry a defective copy of a gene known as CFTR, Donaldson said. Children born with the disease soon develop chronic lung damage, since their lungs cannot clear excessively sticky mucus by sweeping it to the mouth, where it is swallowed and eliminated. Respiratory failure is the leading cause of death in CF patients. This research is important both for its immediate application and because it provides the roadmap for... (Science Daily)
Researchers Discover An Efficient and Inexpensive Weapon Against Cystic Fibrosis Jan 20, 2006
"We are very excited that this simple and inexpensive therapy turned out to be so effective and well-tolerated in patients with CF (cystic fibrosis), Scott H. Donaldson of the University of North Carolina - the paper's first author said. "These results could change how physicians elsewhere care for patients with CF. As we look at the combined results of our study and those of our Australian colleagues, it gives us great hope that use of this therapy will reduce how often patients feel ill, will... (Softpedia)
