Cystic Fibrosis Genetics: Discover More About CFTR
What is CFTR?
Cystic fibrosis transmembrane conductance regulator (CFTR) is a gene that regulates the production of a protein which works as a channel for the membrane of cells in the body that create mucus, saliva, sweat, tears or digestive enzymes. This conductor leads particles, that are negatively charged and known as chloride ions, into and out of the cells. These movements are what control the water displacement in the tissues, which is needed for the cells to produce thin mucus that flows freely.
“Mucus is a slippery substance that lubricates and protects the lining of the airways, digestive system, reproductive system, and other organs and tissues,” explains the Genetics Home Reference. “The CFTR protein also regulates the function of other channels, such as those that transport positively charged particles called sodium ions across cell membranes. These channels are necessary for the normal function of organs such as the lungs and pancreas.”
How Does CFTR Impacts Cystic Fibrosis?
The exact cause for the development of cystic fibrosis isn’t yet fully understood, but the disease is known to be associated with a mutation in the CFTR gene. Over a thousand gene mutations have been identified in CF patients, most of them are related to a single change in amino acids, which are protein building blocks. These mutations can mean that there is an alteration in the CFTR protein or the complete absence of a part of the DNA in the CFTR gene. The most common CFTR mutation that causes cystic fibrosis is known as delta F508 and it results in the deletion of one amino acid at position 508 in the CFTR protein. Due to the absent amino acid, the channels are broken and the transportation of chloride ions is not possible.
“CF is an inherited disorder caused by having two abnormal copies of the CF gene. You cannot catch or acquire CF,” states the American Lung Association. “The only risk factor for getting CF is having two parents who carry abnormal CF genes and pass the abnormal gene to their child. However, there are factors that impact how severe the CF is. CF gene mutations are divided into classes based on how damaged the CFTR protein function is. Classes I, II, and III are generally more severe causing “classic CF.” Classes IV and V are usually milder. Also, other genes called modifier genes can affect a person’s symptoms and outcome.”
To date, 2,007 mutations have been identified in the CFTR gene, but their contribution to cystic fibrosis (CF) development has not been defined for the majority of these mutations.
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