Cystic fibrosis (CF) is believed to be a rare monogenic disorder that only affects individuals of Caucasian descent. Normally, everyone inherits two copies of the CFTR gene. However, individuals with CF inherit two mutant copies of CFTR, making CF an example of a recessive disease.
After using ClustalW to align the DNA and the protein, to examine the type of mutation that the gene maps to, we can discern the type of mutation to be a frameshift lead by the insertion of incorrect amino acids. Mutations that cause the insertion of incorrect amino acids are considered as protein processing mutations. Another genetic abnormality that can cause CF is the deletion of deletion of phenylalanine 508 in the CFTR gene.
Usually, when the CFTR protein is made using all the correct amino acids, it folds into a 3-D shape. Without the correct amino acids, the CFTR protein would not fold into a stable 3-D shape which compromises its ability to transport chloride effectively in and out of the cell. In addition, keeping a balance between salt and other fluids in the body is crucial for keeping mucus thin and free-flowing in our airways.
The loss of CFTR expression can disrupt the normal production and the function of the CFTR chloride channel, inhibiting the flow of chloride ions and water in and out of the cells. Resulting mucus-producing cells to secret abnormally thick and sticky mucus. Furthermore, obstructing the airways and glands, manifesting symptoms of cystic fibrosis. The production of thick mucus also blocks pancreatic ducts, preventing the pancreas from delivering enzymes needed for digestion and from producing insulin, which can lead to diabetes.
Sadly, there is no cure for cystic fibrosis as of now, but treatment is used to reduce pain and prevent complications. Some of the treatment options of CF include antibiotics to treat and prevent infection, mucus-thinning drugs, and inhaled medication which help in keeping the airways open by relaxing the muscles around the bronchial tubes. Patient C has issues with weight loss so Ivacaftor, which is an FDA approved medication that improves lung function, could be a good option for this patient. Other treatment options such as surgical procedures, pulmonary rehabilitation, and chest physical therapy are also available to improve the lung function of patients with CF.
- I collaborated with a resume and personal letter workshop last year with Matt and it was a big success. Everyone who came loved it and found it useful. For this program,we are planning on inviting the peer advisors to lead the workshop with us. Peer advisors are a group of students that help other students find internship, apply to funds, create Linkedin account and edit resumes. They are a great resource but unfortunately, not a lot students utilise them which could be due to lack of awareness. Collaborating with us on this program could help them connect with more students who can also spread the word about them by telling their friends how helpful the peer advisors are and how they should go to see them if they need any help with their resumes or anything related with finding internships or applying for funds. Besides,getting help with their resumes residents would also have the opportunity to get a professional headshot taken which is supper helpful as they can use it as a Linkedin profile.