Lose Weight 20 Pounds! Cystic fibrosis occurs due to the mutation in the CFTR gene. Know more about CF gene mutations, the problems it presents inside health of people and other issues that may arise as a result.
Cystic fibrosis (CF) is a genetic disorder characterized by the production of sticky mucus which in turn clogs the lungs resulting in frequent infections, like bronchitis, pneumonia and sinusitis. Symptoms of lung infections in CF gene mutations include long term cough with phlegm, wheezing, and fever. The pancreas can also be affected eventually ultimately causing the blockage of digestive enzymes from going to the small intestines. Manifestation of digestive problems include diarrhea, fat loss, malnutrition, gas, severe constipation, and poor growth. Other complications of cystic fibrosis are diabetes, pancreatitis, continuing development of gall stones and liver disease. Rectal prolapse, in which the tissues within the rectal wall protrude out from the anus, may sometimes occur due to defecation problems and to the frequency of coughing.
In the United States, cystic fibrosis is amongst the common reasons behind mortality in youngsters.
The gene closely linked to the growth and development of cystic fibrosis could be the cystic fibrosis transmembrane regulator (CFTR) gene. Mutation in CFTR often results in the manifestation of cystic fibrosis symptoms caused by lung problems and digestion problems. CFTR is found on the long arm of human chromosome 7.
The CF gene was first discovered in 1989 and after its discovery, more or less than 1000 CF gene mutations were identified. CFTR can be a protein categorized as a traffic ATPase. These types of proteins account in transporting essential molecules like metal cations, sugars, chloride, inorganic phosphate and peptides transversely on the cell membrane. It is especially important inside transport of chloride ions planning and out with the cells. The presence of chloride ions generally controls the lake movement in tissues thus allowing the creation of mucus that's thin and flows freely. When mutations inside CRTR gene occurs, the function of chloride channels present inside the cells are affected, thus causing derangement inside the regulation of chloride ion transport over the membrane of the cells. This often make cells that line the lungs and pancreas to create sticky and thick mucus, futher causing clogging of their passageways.
Aside from cystic fibrosis, alterations inside the CFTR gene could cause congenital bilateral deficiency of vas deferens (CBAVD) in men. Sticky mucus that's produced by cystic fibrosis can sometimes clog the vas deferens of children, affecting its normal development. Affected male children can survive around adulthood, and most with the problems with CBAVD usually arises during their productive years. CBAVD is generally established when indications of azoospermia, where no sperms are present in the semen, occur. During physical examination the vas deferens couldn't be palpated and proof of abnormalities might also appear after doing imaging studies.This is usually the cause of infertility that face men with cystic fibrosis. Some women with cystic fibrosis, can also experience infertility, but is less common in incidence.
Genetics Home Reference: Cystic Fibrosis
MedicineNet.com: Cystic Fibrosis
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