There are around 500 different genetic mutations associated with this disease, so screening for this disease is difficult. 70 % of the mutations are found to be delta F508, F508 is the most common CF mutation.
The inheritance of cystic fibrosis is caused if both parents are carriers of this disease. There is a good 25 % chance that any of their children will be a sufferer. But there is a 50 % chance of the child being a carrier themselves. There is also an equal chance that a child will inherit no faulty alleles and his/her descendants will be free from the disease. A normal allele makes a membrane protein, but in the mutated allele this does not code for this particular protein.
This disease is caused by a mutation or change in the CFTR Gene (Chromosome 7).
About one person in 25 carriers the defective allele, they can also carry the normal allele but not suffer from the disease. The symptoms include:
Affects appetite
Affects the digestive glands
Sufferers need to take enzymes every time they have a meal, these enzymes help digest the food.
The difference in the disease:
If you have two normal alleles, you are healthy.
If you have one normal allele and one faulty allele, you are healthy, but are a carrier.
If you have two faulty alleles, you have the disease.
The features of cystic fibrosis are:
Excessive mucus production, especially in the lungs and pancreas
Breathing is affected
Susceptible to infections
This disease affects the person’s lungs and their lungs produce sticky mucus. This allowing bacteria to thrive and can be life-threatening. Regular physiotherapy is needed to reduce the mucus build up on the lungs. Life expectancy has significantly reduced through medical advances that have been made in recent years. The life expectancy is getting longer, from 10 years to around 40 years of age. On of these treatments involves regular physiotherapy and a nasal spray has been developed using genetic engineering and these are helping to alleviate the symptoms. The progress of gene therapy, nutritional treatments and antibiotics for CF is extending the life span of sufferers. CF is a complex, multi system disease requiring a co-management by health care professionals because of the multiple disorders seen in a CF patient.
In the future, the study of CF-associated diseases may help gain greater insight into the basic defect in cystic fibrosis and perhaps lead to an effective control of this disease or even a cure.