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Cystic Fibrosis
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TLDR
Advances in understanding and treatment of cystic fibrosis are summarized, focusing on pulmonary disease, which accounts for most morbidity and deaths.Abstract:
Cystic fibrosis is the most common autosomal recessive disorder in white people, with a frequency of about 1 in 2500 livebirths. Discovery of the mutated gene encoding a defective chloride channel in epithelial cells--named cystic fibrosis transmembrane conductance regulator (CFTR)--has improved our understanding of the disorder's pathophysiology and has aided diagnosis, but has shown the disease's complexity. Gene replacement therapy is still far from being used in patients with cystic fibrosis, mostly because of difficulties of targeting the appropriate cells. Life expectancy of patients with the disorder has been greatly increased over past decades because of better notions of symptomatic treatment strategies. Here, we summarise advances in understanding and treatment of cystic fibrosis, focusing on pulmonary disease, which accounts for most morbidity and deaths.read more
Citations
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Journal ArticleDOI
Therapy through chaperones: sense or antisense? Cystic fibrosis as a model disease.
TL;DR: The cellular roles of molecular chaperones and some new insights on the mechanisms by which they influence the development of human diseases caused by mutations that lead to protein misfolding are described.
Journal ArticleDOI
Cystic Fibrosis Transmembrane Conductance Regulator Activation by Roflumilast Contributes to Therapeutic Benefit in Chronic Bronchitis
James A. Lambert,S. Vamsee Raju,Li Ping Tang,Carmel M. McNicholas,Yao Li,Clifford A. Courville,Roopan F. Farris,George Coricor,Lisa High Mitchell Smoot,Marina Mazur,Mark T. Dransfield,Graeme B. Bolger,Steven M. Rowe +12 more
TL;DR: Roflumilast activates CFTR-mediated anion transport in airway and intestinal epithelia via a cyclic adenosine monophosphate-dependent pathway and partially reverses the deleterious effects of WCS, resulting in augmented ASL depth.
Journal ArticleDOI
Microstructural alterations of sputum in cystic fibrosis lung disease
Gregg A. Duncan,James Jung,Andrea Joseph,Abigail L. Thaxton,Natalie E. West,Michael P. Boyle,Michael P. Boyle,Justin Hanes,Jung Soo Suk +8 more
TL;DR: Sputum microstructure is quantitatively determined based on the diffusion of muco-inert nanoparticle probes in CF sputum and it is found that a reduction insputum mesh pore size is characteristic of CF patients with reduced lung function, as indicated by measured FEV1.
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The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing
TL;DR: The spectrum of CFTR variants and their frequencies in CF patients in the United States with African, Native American, Asian, East Indian, or Middle Eastern backgrounds is established and equity in mutation detection between white and nonwhite or mixed-ethnicity CF patients is facilitated.
Journal ArticleDOI
Pseudomonas aeruginosa - Pathogenesis and Pathogenic Mechanisms
TL;DR: Understanding host-pathogen interaction is critical for the development of effective therapeutic strategies to control the damage in the lung, and several virulence factors have been studied for their roles as potential vaccine candidate, although there is currently no clinically accepted vaccine.
References
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Journal ArticleDOI
Modifier genes in cystic fibrosis lung disease.
TL;DR: It is now clear that CFTR genotype alone does not account for the wide diversity in CF pulmonary phenotype and evidence is accumulating that secondary genetic factors separate from the CFTR locus significantly influence the severity of CF lung disease.
Related Papers (5)
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
Bonnie W. Ramsey,Jane C. Davies,N. Gerard McElvaney,Elizabeth Tullis,Scott C. Bell,Pavel Dř evínek,Matthias Griese,Edward F. McKone,Claire E. Wainwright,Michael W. Konstan,Richard B. Moss,Felix Ratjen,Isabelle Sermet-Gaudelus,Steven M. Rowe,Qunming Dong,Sally Rodriguez,Karl Yen,Claudia L. Ordoñez,J. Stuart Elborn +18 more