The past two postings have mentioned the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene.
Some mutations to the CFTR causes CF, and CFTR is indeed the primary cause of Cystic Fibrosis. To allow a better understanding of this important root of Cystic Fibrosis, today’s post focuses on this CF gene.
The CFTR gene was identified in 1989 by geneticist Lap-Chee Tsui and his research team. Everyone has two copies of this gene, one from each parent (http://www.nhlbi.nih.gov/health/dci/Diseases/cf/cf_causes.html). Children who inherit a faulty CFTR gene from each parent will have CF. However; those who inherit a faulty CFTR gene from one parent and a normal CFTR gene from the other parent usually have no symptoms of cystic fibrosis, as they will have enough normal copies of the gene to be healthy (https://embryo.asu.edu/pages/cystic-fibrosis-transmembrane-conductance-regulator-cftr-gene).
Breaking down the acronym CFTR provides a glimpse of how it operates. (http://cysticfibrosis.about.com/od/cysticfibrosis101/a/CFTR.htm) –
Cystic Fibrosis – the disease that occurs when two copies of the gene do not function properly
Transmembrane – the prefix “trans” means “across” , so transmembrane means across the membrane (CFTR is a transporter gene)
Conductance – the ease with which electricity, gas, or fluid flows through a substance
Regulator – a mechanism of control
To go into further detail about CFTR, it is part of a family of genes that regulate the energy transfer which enables a cell to open and close its ion channels, and is located on the human chromosome 7. The CFTR gene produces the CFTR protein, which regulates the chloride ion content of certain cells in the body. When chloride ions are not able to leave the cells properly, as is the case with CF patients, water is retained in the cells, and as a result, some fluids, including mucus, are thicker than they should be.
A functioning CFTR gene is critical to normal human development, and mutations to this gene are life threatening in most cases, because they compromise the function of the pancreas, gastrointestinal tract, and respiratory systems. When the respiratory system is compromised, mucus build-up in the lungs result in infections. As for the related dysfunction of the pancreas and gastrointestinal tract, the results are the likely destruction of the pancreatic exocrine function and lack of proper absorption of nutrients (https://embryo.asu.edu/pages/cystic-fibrosis-transmembrane-conductance-regulator-cftr-gene).
Check out the YouTube video of this posting at https://youtu.be/dgc_vLpBAaA
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follow url Topic for the next posting – Early Study of CF Medication Formulation CTP-656 Shows Superior Effects Compared to Existing CF Medication Kalydeco