Genetic Disorders: Cystic Fibrosis
Cystic Fibrosis:
What is Cystic Fibrosis:
Cystic fibrosis (CF) is a lifelong hereditary/genetic disorder, meaning the disease can be passed on from parent to child and can be inherited. CF is not contagious. Both parents must be either a carrier or suffer from CF for the disease to be passed on however carriers show no symptoms that a suffer does. CF affects the respiratory system; mainly the lungs and some parts of the digestive and reproductive systems including the pancreas, liver and the vas deferens in males. This is due to a malfunction of the exocrine system (system responsible for the excretion of sweat, saliva, tears, and mucus).
Diagnosis:
This disease can be diagnosed at birth and testing is available to identify whether the person …show more content…
Symptoms:
Symptoms are nonexistent for carriers of the disease. Cystic Fibrosis produces an abnormal amount of thick, sticky mucus within the lungs, airways and digestive system. This inhibits proper oxygen flow and initiates infections as well as trapping bacteria in the lungs (irreversible). Digestive functions of the pancreas are also impaired.
Treatment:
There is no cure for CF, however, some treatment can delay the progression of the disease, however, some side effects to the treatment include the strain on vital organs, especially the lungs and pancreas. Chest physiotherapy is also a treatment that a sufferer of CF can go through.
Patients with CF can consume up to 40 tablets/capsules of medication (usually for breaking down mucus to allow it to pass and for efficient digestive function) and approximately 3 hours of airway cleansing to allow oxygen flow. Medication can also be prescribed for enzyme supplements, concentrated salt and vitamin supplements and Aerosol mist …show more content…
The CFTR protein is responsible for functioning as a channel for chloride ions (salt) in and out of cells. Changes in the CFTR gene can consequently change the quality and structure of the protein CFTR being created. The CFTR gene has 27 segments called exons which produce a complete mRNA message. The message is then translated into a chain amino acids which take the structure according to the message. Normally, the amino acids will produce a CFTR protein that will position in the cell membrane and function as a channel for ions. Any mutation in the gene or incorrect sequencing prohibits the channel from functioning and being positioned in the membrane adequately. Over 1,000 mutations of the CFTR gene is responsible for CF, however, the most common are due to the deletion of 3 nucleotides in the gene. The 3 nucleotides are responsible for the production of the amino acid (phenylalanine). This is denoted as ∆F508 and is found in 90% of CF
What is Cystic Fibrosis:
Cystic fibrosis (CF) is a lifelong hereditary/genetic disorder, meaning the disease can be passed on from parent to child and can be inherited. CF is not contagious. Both parents must be either a carrier or suffer from CF for the disease to be passed on however carriers show no symptoms that a suffer does. CF affects the respiratory system; mainly the lungs and some parts of the digestive and reproductive systems including the pancreas, liver and the vas deferens in males. This is due to a malfunction of the exocrine system (system responsible for the excretion of sweat, saliva, tears, and mucus).
Diagnosis:
This disease can be diagnosed at birth and testing is available to identify whether the person …show more content…
Symptoms:
Symptoms are nonexistent for carriers of the disease. Cystic Fibrosis produces an abnormal amount of thick, sticky mucus within the lungs, airways and digestive system. This inhibits proper oxygen flow and initiates infections as well as trapping bacteria in the lungs (irreversible). Digestive functions of the pancreas are also impaired.
Treatment:
There is no cure for CF, however, some treatment can delay the progression of the disease, however, some side effects to the treatment include the strain on vital organs, especially the lungs and pancreas. Chest physiotherapy is also a treatment that a sufferer of CF can go through.
Patients with CF can consume up to 40 tablets/capsules of medication (usually for breaking down mucus to allow it to pass and for efficient digestive function) and approximately 3 hours of airway cleansing to allow oxygen flow. Medication can also be prescribed for enzyme supplements, concentrated salt and vitamin supplements and Aerosol mist …show more content…
The CFTR protein is responsible for functioning as a channel for chloride ions (salt) in and out of cells. Changes in the CFTR gene can consequently change the quality and structure of the protein CFTR being created. The CFTR gene has 27 segments called exons which produce a complete mRNA message. The message is then translated into a chain amino acids which take the structure according to the message. Normally, the amino acids will produce a CFTR protein that will position in the cell membrane and function as a channel for ions. Any mutation in the gene or incorrect sequencing prohibits the channel from functioning and being positioned in the membrane adequately. Over 1,000 mutations of the CFTR gene is responsible for CF, however, the most common are due to the deletion of 3 nucleotides in the gene. The 3 nucleotides are responsible for the production of the amino acid (phenylalanine). This is denoted as ∆F508 and is found in 90% of CF