A Study On Cystic Fibrosis - 1843 Words

Cystic fibrosis, a genetic disease that limits one’s ability to breathe, affects mostly the lungs but also can have a damaging effect on the intestine, kidneys, liver, and pancreas. The name cystic fibrosis comes from the characteristic fibrosis and cysts that form within the pancreas. It is a life-threatening illness, which afflicts around 30,000 people in the United States and about 70,000 worldwide, with approximately 1,000 new cases being diagnosed each year and more than 75 percent of those people being diagnosed by the age of two. Nearly half of the cystic fibrosis population is over 18 years of age, and the life expectancy is between 37 to 50 years old. The ailment, commonly referred to as CF, is a recessive disease, so both†¦show more content†¦One such hypothesis is the heterozygote advantage. Sickle cell anemia, a similar autosomal recessive disease, illustrates this hypothesis. It has been found to protect carriers from other diseases, and it has been spec ulated that people with CF are similarly resistant to certain diseases like cholera and typhoid, which could be why the disease has prevailed for so long. Stemming from a genetic mutation with a membrane pore, or channel that helps to facilitate the transport of bicarbonate electrolytes and chloride from between the inside and the outside of the cell, cystic fibrosis and its inherent symptoms are caused by the loss of the pore channel, which results in inflammation and mucus accumulation. Dehydration of the cell surface also occurs. Normally, cells have a cystic fibrosis transmembrane regulator channel that influences fluid secretion in epithelial cells. When this channel is mutated, there is a decrease in the flow of ions and water, and this results in dehydrated mucous that affects breathing. This in turn causes lethal bacterial infections by blocking ducts within the lungs. The most common mutation of the cystic fibrosis conductance regulator is F508del-CFTR. This mutation creates a misprocessed protein that rapidly degrades as it is abnormally retained in the endoplasmic reticulum compartment, therefore making it absent in the plas ma membrane