Cystic-Fibrosis

toc =Summary=

Cystic fibrosis is a hereditary genetic disease that causes chronic buildup of abnormally thick mucus in the lungs' passages and the digestive tract. The pancreas absorbs nutrients in a destructive way, causing repeated infection and sickness. A fault with the cilia in the affected passageways allows for these sicknesses to take hold much easier, and the body will far overproduce mucus due to it trying to fight disease to a normal extent.

=Origin=



Cystic fibrosis is caused by a nonsense mutation what is a nonsense mutation? on chromosome seven of the human genome; what gene? this 500-or-so mutations that are inherited from a parent and can often skip multiple generations causes defects in parts of the digestive, respiratory and secretory systems, as listed above. Of the 500 mutations, the most common are a deletion of a codon, a missense, and a nonsense mutation.

Cystic fibrosis is experienced by billions of people without even realizing it, as for the disease to actually take hold, the defective genes must be passed to a child by both parents. It is most often experienced by Caucasians, particularly those with ancestry in Northern Europe.

=Symptoms=

Symptoms of cystic fibrosis include frequent infections, a decreased absorption of nutrients, infertility, failure of several organs including the pancreas, liver, and/or digestive track. Other symptoms include malnutrition and poor growth.

Certain symptoms, such as lack of weight gain and few bowel movements, can indicate cystic fibrosis at birth.

In addition to frequent infection, children can often exhibit breatthing symptoms similar to asthma, low weight, exhaustion, recurrent pneumonia, and high rates of coughing.

In more mild cases, cystic fibrosis symptoms can be significantly reduced, with the disease itself avoiding detection up to the age of 18. People exhibiting this limited form of cystic fibrosis, despite not knowing about it, will live longer lives.

=Living with Cystic Fibrosis=

The few treatments that exist at present are not very effective. The main types of treatments include airway clearing techniques (ACT), inhaled medication, antibiotics, and an increased intake of antibiotics. Most of these treatments are focused on keeping the amount of mucus in airways to a minimum, and preventing bacterial infections due to the inability of the alveoli to do so themselves.

Screening, however, can be very effective both in deciding whether or not to have children and how one should conduct treatment of their newborn in the future. The effectiveness in successful recognition of cystic fibrosis ranges from 60 to 90% of cases.

Most instances of cystic fibrosis live mostly healthy, active lives until adulthood; many victims are able to get through college, though lung disease caused by repeated infections lead to serious decrease in quality-of-live, usually living to an average of 35 before dying due to complications of lung infection.

Modern medical technology has allowed those afflicted with cystic fibrosis to live longer and healthier lives, and the average lifespan of victims increases year by year.

=Significance=

Because of the variety of mutations involved in the disease, there is no real way of preventing it. Cystic fibrosis is significant to the study of AP Biology due to the fact that these mutations lead to a lack of a single protein, which in the end has a profound effect on the entire organism. It is also a good example of the different types of mutations, as many of these types are present within that particular gene in people afflicted with cystic fibrosis. =Sources=


 * //Therapies for cystic fibrosis.//. (2010, April 12). Retrieved from [].
 * //Types of mutations.// (n.d.). Retrieved from [].
 * Zieve, D., & Kaneshiro, N. (2010, July 14). //Cystic fibrosis.// Retrieved from [].

Zachary Waldowski and Leeanne Small