CFTR gene mutations cause cystic fibrosis, a rare genetic condition which causes progressive digestive and respiratory system damage. Yet it can be extremely difficult to treat for those with “stop” mutations, or nonsense mutations. This is because patients with stop mutations do not produce much CFTR protein, so therapies designed to stimulate CFTR function are often ineffective. Learn more about stop mutations.
In a recent news release, researchers from the Rosalind Franklin University of Medicine and Science shared that their team had developed a new antisense oligonucleotide (ASO) therapy for those with cystic fibrosis. This therapy, which can be used in conjunction with CF modulators, has the potential to fill an unmet need for those with difficult-to-treat CF.
Researchers evaluated this therapy within a study and found that the ASO treatment was effective in heightening and recovering CFTR protein in cell models of CF. As described in the study findings, published in the Proceedings of the National Academy of Sciences (PNAS), the ASO therapy worked by removing the stop mutation. In doing so, CFTR activity was able to increase. While the results were promising, future research is needed to determine whether this therapy will also be effective in humans.
About Cystic Fibrosis (CF)
As cystic fibrosis is inherited in an autosomal recessive pattern, those with this condition must inherit one defective gene from each parent. This mutation impacts the regulation of salt movement within the body. As a result, those with cystic fibrosis have thick, sticky mucus which builds up throughout their system. In addition to trapping bacteria and clogging airways, this thick mucus can also prevent the release of digestive enzymes and halt nutrient absorption. Cystic fibrosis is more common in Caucasian individuals than those of other backgrounds. Symptoms associated with this condition include:
- Frequent or recurrent infections
- Persistent coughing and/or wheezing
- Fatigue
- Nasal polyps
- Poor weight gain
- Stuffy nose
- Salty-tasting skin
- Exercise intolerance
- Constipation or diarrhea
- Shortness of breath and/or difficulty breathing
- Male infertility
- Respiratory failure
