Cystic Fibrosis Lung Disease

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Cystic fibrosis lung disease is a barrier (blocking any kind of treatments) to effective gene therapy treatment. “Around 8,000 people in the UK have cystic fibrosis and one in 25 is carriers for the condition” [1]. Cystic fibrosis (CF) is the most common genetic disease which affects the entire body, causing increasing disability and often, early death. This is due to the mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene [2]. The most common mutation, ΔF508, is a deletion of three nucleotides which results in a loss of the amino acid phenylalanine, at the 508th position on the CFTR protein [3]. As cystic fibrosis is an autosomal recessive genetic disease, in order for someone to develop this disease they need…show more content…
This gene codes for a protein that form an ion channel, facilitating the movement of salts (sodium and chloride ions) and water across the cell membrane. This is important in creating sweat, digestive juices and mucus [5]. In patients with cystic fibrosis, CFTR is prevented in carrying out these functions due to alteration of salt and water balance in lungs. This eventually causes dehydration in most of the organs and causes thick, sticky mucus to build up in the lungs and digestive tract. Consequently, this creates an environment that favours bacterial growth, and people who suffer from cystic fibrosis are exposed to rapid respiratory tract infections which lead to inflammation and progressive lung…show more content…
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