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Clearing the airways in cystic fibrosis
August 29, 2008Research in the FASEB Journal shows that engineered proteins can 'bypass' the genetic defect in cystic fibrosis
By manipulating the machinery used by our cells for quality control, researchers from the University of Pittsburgh have found a way to restore the function of cystic fibrosis (CF) airway cells. This could significantly reduce the sticky mucus that plugs the lungs of CF patients, which leads to antibiotic-resistant infections and untimely death. The study, appearing in the September 2008 print issue of The FASEB Journal (http://www.fasebj.org), is significant because it shows a new way to manipulate the cellular quality controls of all sorts of proteins which play a role in conditions ranging from aging to cancer.
"Our hope is that this work will provide new approaches for recovering function from the protein whose inability to fold and function properly compromises the quality of life and life expectancies of people with CF," said Raymond Frizzell, senior author on the study. The researchers say, however, that it is too early to tell exactly what other conditions this technique will affect.
Most people do not realize that when our bodies produce proteins, they sometimes make mistakes. Similar to what happens on assembly lines, these mistakes are rejected and prevented from being used. In most people with CF, however, defective (i.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. To help these mutant proteins (the {DELTA}F508 CF gene mutation) reach cell surfaces, researchers developed a "decoy," made up of only a portion of the complete mutant protein, which is rejected instead. 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.
"Since this pivotal discovery of the CF gene nearly 20 years ago, researchers have made more progress toward a cure than they had in thousands of years before," said Gerald Weissmann, MD, Editor-in-Chief of The FASEB Journal. "People with cystic fibrosis now live longer than once ever thought possible, and basic science breakthroughs like this one keep the trend ever upward."
According the U.S. Cystic Fibrosis Foundation, cystic fibrosis affects about 70,000 people worldwide. It is caused by a defective gene and its protein product, which causes the body to produce very thick and sticky mucus. This mucus clogs the lungs and leads to life-threatening lung infections. It also blocks enzymes from the pancreas that needed to break down and absorb food. Sixty years ago, few children with cystic fibrosis lived to attend elementary school. Today, the projected median survival age is 37.
Federation of American Societies for Experimental Biology
Most people do not realize that when our bodies produce proteins, they sometimes make mistakes. Similar to what happens on assembly lines, these mistakes are rejected and prevented from being used. In most people with CF, however, defective (i.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. To help these mutant proteins (the {DELTA}F508 CF gene mutation) reach cell surfaces, researchers developed a "decoy," made up of only a portion of the complete mutant protein, which is rejected instead. 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.
"Since this pivotal discovery of the CF gene nearly 20 years ago, researchers have made more progress toward a cure than they had in thousands of years before," said Gerald Weissmann, MD, Editor-in-Chief of The FASEB Journal. "People with cystic fibrosis now live longer than once ever thought possible, and basic science breakthroughs like this one keep the trend ever upward."
According the U.S. Cystic Fibrosis Foundation, cystic fibrosis affects about 70,000 people worldwide. It is caused by a defective gene and its protein product, which causes the body to produce very thick and sticky mucus. This mucus clogs the lungs and leads to life-threatening lung infections. It also blocks enzymes from the pancreas that needed to break down and absorb food. Sixty years ago, few children with cystic fibrosis lived to attend elementary school. Today, the projected median survival age is 37.
Federation of American Societies for Experimental Biology
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Bacteria 'launch a shield' to resist attack
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Protein critical for insulin secretion may be contributor to diabetes
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Nanoparticle treatment for burns curbs infection, reduces inflammation
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Research Matters at the Arizona Health Sciences Center (AHSC): UA Researchers Seek Safer Cystic Fibrosis Test
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Species diversity helps ASU researchers refine analyses of human gene mutations
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New developments in reproductive medicine
Three out of ten women who undergo polar body diagnosis go on to have a child.
Faster, cheaper way to find disease genes in human genome passes initial test
University of Washington (UW) researchers have successfully developed a novel genome-analysis strategy for more rapid, lower cost discovery of possible gene-disease links.
Mutation responsible for cystic fibrosis also involved in muscle atrophy
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Cystic Fibrosis: A Guide for Patient and Family by David M Orenstein (Editor) Univ. of Pittsburgh, PA. Text is designed specifically for patients with cystic fibrosis and their families. Explains the disease process, outlines the fundamentals of diagnosing and screening, and addresses the challenges of treatment for those living with CF. Includes new material on carrier testing, infection control, and more. Previous edition: c1997. Softcover. |
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Cystic Fibrosis: Everything You Need To Know (Your Personal Health) by Wayne Kepron MD FRCPC (Author) Cystic fibrosis afflicts approximately 30,000 Americans. The average age of survival has been steadily increasing, but not quickly enough: a child born with cystic fibrosis today can only expect to live 35 to 40 years. In this valuable new addition to the Your Personal Health series, Dr. Wayne Kepron offers a comprehensive look at the disease that afflicts so many young people. Topics include: - Symptoms of cystic fibrosis - Making a diagnosis - Complications of the disease - Treatments (including lung transplants) - Techniques and precautions in lung care - Transition into adulthood - Prospects for gene therapy - End-of-life issues Using diagrams, charts and case studies, Cystic Fibrosis is designed for patients, their families, and caregivers. It is both a quick... |
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With Every Breath: stories by and about people living with cystic fibrosis by Katherine Russell and Margot Russell (Author), Katherine Russell and Margot Russell (Editor) Over 30,000 people in the US have cystic fibrosis, a life-threatening genetic disease that affects the lungs and digestive system. Physically, fighting it is a very perilous struggle. Emotionally, coping can oftentimes be even harder. With Every Breath consists of stories by and about people living with cystic fibrosis. Created to motivate, inspire, and generate positivity for those living with cystic fibrosis, this book is something you can open time and time again. Designed for all ages, this collection of diverse stories offers unique perspectives from patients, a CF doctor and nurse, and family members of those living with the illness. Patients aren't the only ones who will want to read With Every Breath as family members, friends, and doctors can all find inspiration when they... |
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Cystic Fibrosis (Facts) by Ann Harris (Author), Anne Thomson (Author) Cystic Fibrosis: The Facts provides a much needed simple and understandable source book about this disease. It is aimed at those living with Cystic Fibrosis (CF), either themselves or members of their families or their friends. The book explains clearly what is happening to the body in CF, what causes it and what treatment options are available for the different aspects of the disease. There are more detailed chapters for those wanting to find out about the genetics of the disease and specific aspects such as how it affects life choices and employment. It looks to the future in terms of potential new therapies for CF and provides useful information on organizations that can provide help and further information across those areas of the world where the disease is prevalent. |
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The Power of Two: A Twin Triumph over Cystic Fibrosis by Isabel Stenzel Byrnes; Anabel Stenzel (Author) The tragedy of cystic fibrosis has been touchingly recounted before, but this is the first book to portray the symbiotic relationship between twins who share this life-threatening disease through adulthood. Isabel Stenzel Byrnes and Anabel Stenzel tell of their struggle to pursue normal lives while grappling with the realization that they might die young. Their story reflects the physical and emotional challenges of a particularly aggressive form of CF and tells how the twins bicultural heritage Japanese and German influenced the way they coped. The Power of Two is an honest and gripping portrayal of day-to-day health care, the impact of chronic illness on marriage and family, and the importance of a support network to continuing survival. These two remarkable sisters have much to teach... |
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The Stones Applaud: How Cystic Fibrosis Shaped My Childhood by Teresa Anne Mullin (Author) Teresa Mullin was diagnosed with cystic fibrosis at four years of age, but it was not until she was nine that she learned most children with the disease were not expected to live to adulthood. What had been a nuisance soon became a force that molded her childhood, youth, and future. In The Stones Applaud, Mullin writes of absences from school, serving as a poster child, frequent hospitalizations, medical treatments, and most painful the isolation that came with cystic fibrosis, an inherited condition that damages the lungs and affects the digestive system. With dry humor and sharp insights, Mullin describes her battles with the disease, teachers, fellow students, and even medical professionals who tried to hold her back from experiencing life. Alternately funny, frank, poignant, and... |
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Cadberry's Letters by Jennifer Racek (Author) Cadberry's mom is very forgetful. Every time they visit his doctor together she talks about C & F. She never remembers the other letters. When Cadberry draws a set of letters to help his mother remember them all, he discovers what C & F really mean and how those two tiny letters affect so much of his life. Developed for pre-school-age children, Cadberry's Letters uses simple, easy-to-follow language to explain Cystic Fibrosis and the daily care that goes along with it in terms young children can understand. Children will learn along with Cadberry about things like Pancreatic Enzymes, Chest Physical Therapy and more. Bright, full-page illustrations bring the story to life and feature a lot of the equipment and medications CF patients may use in their daily lives. |
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Cystic Fibrosis by Margaret Hodson (Author), Duncan Geddes (Author), Andrew Bush (Author) This international and authoritative work, which brings together current knowledge in the field of cystic fibrosis, has become established in previous editions as a leading reference in the field. The third edition continues to provide everything that the clinician or allied health professional treating patients with cystic fibrosis will need in a single manageable volume. Thoroughly revised and updated throughout, it reflects the significant advances that have been made in the field since the second edition published in 2000. Cystic Fibrosis outlines in detail the basic science that underlies the disease and its progression, putting it into a clinical context. Diagnostic and clinical aspects are covered in depth, as are monitoring the condition and the importance of... |
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Understanding Cystic Fibrosis (Understanding Health and Sickness Series) by Ph.D., Karen Hopkin (Author) Since the discovery of the CF gene in 1989, scientists have learned a great deal about the biology of this disease which strikes one child in every 3,300 births. With the gene pinpointed, scientists are now working on ways to replace it and are developing better tests for earlier diagnosis. Understanding CF charts the progress that has been made in a disease whose symptoms can range from mild respiratory distress to life-threatening lung infections |
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Taking Cystic Fibrosis to School by Cynthia S. Henry (Author), Cynthia S. Henry (Author), Tom Dineen (Author), Tom Dineen (Illustrator) These beautifully illustrated and fun-to-read storybooks simplify and normalize complicated childhood conditions, like cystic fibrosis. When read aloud, other children can identify why a peer may be treated differently and begin to empathize with them. In addition, children whose conditions set them apart as being different begin to feel accepted and safe. Each book includes a Kids' Quiz to reinforce new information and Ten Tips for Teachers to provide additional facts and ideas for teacher use. In Taking Cystic Fibrosis to School, Jessie explains to her classmates that even though she has cystic fibrosis, she can still attend school. |
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