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Dornase alfa, sold under the brand name Pulmozyme, is used for the treatment of cystic fibrosis. [3] It is a recombinant human deoxyribonuclease I (rhDNase), an enzyme which selectively cleaves DNA. [3] Dornase alfa hydrolyzes the DNA present in sputum/mucus and reduces viscosity in the lungs, promoting improved clearance of secretions. [3]
Deoxyribonuclease I (usually called DNase I), is an endonuclease of the DNase family coded by the human gene DNASE1. [5] DNase I is a nuclease that cleaves DNA preferentially at phosphodiester linkages adjacent to a pyrimidine nucleotide, yielding 5'-phosphate-terminated polynucleotides with a free hydroxyl group on position 3', on average producing tetranucleotides.
DNase enzymes can be inhaled using a nebulizer by cystic fibrosis sufferers. DNase enzymes help because white blood cells accumulate in the mucus, and, when they break down, they release DNA, which adds to the 'stickiness' of the mucus. DNase enzymes break down the DNA, and the mucus is much easier to clear from the lungs.
Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Young age (2–13 years), gastrointestinal history (DIOS, meconium ileus), abdominal surgery in the past, HDPE, and use of histamine H2-receptor blockers, corticosteroids, or recombinant human deoxyribonuclease (DNase) are risk factors. [7] Fibrosing colonopathy and cystic fibrosis have a strong correlation. [6]
Judah, a 14-year-old boy who was diagnosed with cystic fibrosis at just two weeks old was granted a wish by the Make-A-Wish Foundation to meet and record music with Jason Derulo
The Cystic Fibrosis Foundation, a non-profit organization dedicated to improving healthcare for people with cystic fibrosis, provided $150 million of the funding for the development for ivacaftor in exchange for royalty rights in the event that the medication was successfully developed and commercialized.
Cystic fibrosis: More than 1,800 mutations in the CFTR gene have been found [71] but the majority of these have not been associated with cystic fibrosis. [72] Most of these mutations either substitute one amino acid (a building block of proteins) for another amino acid in the CFTR protein or delete a small amount of DNA in the CFTR gene. The ...