Cystic Fibrosis Results from Mutations

Cystic Fibrosis Results from Mutations in the genes encoding the cystic fibrosis trans

membrane conductance regulator. This protein product is a traffic ATPase and C1 channel which

localizes to the apical membrane of airway Epithelial.

Breaking it down, Cystic Fibrosis is the most deadly common inherited disease affecting

Caucasians in the United States. Cystic Fibrosis is a disorder that causes a thick and very sticky mucus

to build up in the lungs and digestive tracks. Normally mucus in the lungs trap germs, which are then

cleared out of the lungs, but in Cystic Fibrosis the mucus traps the germs in the lungs. The germs

remain in the lungs and they become infected.. The mucus also disrupts the function of Epithelial cells

which make up the sweat glands in the skin and the mucus also lines the passageway inside the lungs,

pancreas digestion, and the liver. Cystic Fibrosis is the most common disease in children and young

adults, and may result in an early death.

This disease is caused by a defective gene and was discovered in the 1930's. Scientists are

unsure why the Cystic Fibrosis gene evolved in Humans. The evidence they have though has shown

that it helped to protect earlier generations from the bacteria that causes cholera. The highest population

with Cystic Fibrosis is Europe. An estimated 1-29 Caucasians in America have the Cystic Fibrosis

gene. Millions of Americans carry the Cystic Fibrosis gene, but will never have any symptoms. They

are completely unaware of it. 30,000 children and young adults in the united states are living with this

disease. However, fifteen percent of people are diagnosed later in life because the symptoms severity

differs in each person. To have Cystic Fibrosis the child must inherit two defective genes. Humans

have 23 pairs of chromosomes made of the genetic chemical deoxyribonucleic acid, known as

DNA. The gene is the called the CF gene and is found in chromosome 7. So each parent must be a

carrier and then the child will have a 1 in four chance of inheriting cystic fibrosis. There are 1,400

different transformations of the CF gene. Almost all of them can lead to cystic Fibrosis. The most

common CFTR( cystic fibrosis Trans-membrane conductance regulator) mutation is the Delta F508.

This mutation results in CFTR protein mis holding and degrading before the protein can be targeted to

the cell membrane.

Children and young adults with CF can not process or absorb nutrients properly, especially fats.

This is because the mucus obstruct the channels in the pancreas that would normally carry enzymes to

the intestines where is will digest foods. So these children and young adults have problems gaining

weight. A few other symptoms are severe constipation, increased gas and bloating(extended

abdomen),nausea with vomiting, pale or clay colored floating stools, fatigue,coughing with increased

mucus in the sinus or lungs, and reoccurring pneumonia.

Continual progress has been made in the last 15 years. A group of parents started a Cystic

Fibrosis foundation in 1995 and they set their sights very high. They wanted the advanced

understanding of this unknown disorder. They wanted new treatments and most of all the parents just

wanted a cure for their children.

When