Fault In The Cystic Fibrosis Gene

Cystic Fibrosis is caused by a fault in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7 at q31.2. For CF to be expressed, a faulty copy of the gene must be present at both alleles; autosomal recessive. Therefore both parents must be carriers of, or affected by the cystic fibrosis gene (fig. 1) for the gene to be passed on. If a person has one copy of the faulty allele (are heterozygous) they are carriers of the gene and can pass this allele on; if they possess two copies of the faulty allele (are homozygous), they will have CF. People who have CF must consider that their children will definitely be carriers at the very least, and depending on the genotype of their partner, may also suffer from CF.
SYMPTOMS
One of the most common treatments is physiotherapy, where a trained person (usually a family member) manipulates the tissue around the trachea to shift mucus but this can be painful and is time consuming. Medication that is taken orally or through a nebulizer include mucolytics (which break down mucus), corticosteroids (improves respiratory function), bronchodilators (which relax the smooth muscle in lungs) and antibiotics (to treat continuous infections). Pancreatic enzyme supplements are also taken during meal times. (20). It has also been suggested that the cholera toxin may be able to thin mucus and help to alleviate the symptoms. However this has only been hypothesised as of yet (21).
CURE –
There is currently no tested cure for cystic fibrosis. There are 2 types of potential treatments which corrects the inherent problem behind the disease; correctors and potentiators (fig. 3). Both of these treatments show promise in improving patient standard of living. Both of these could deliver huge improvements in patients’ life, there is a long time to go before these therapies are approved for widespread usage.
PROGNOSIS