Complete 5 pages APA formatted article: Analysis of Family Inherited Diseases. Stacked thick mucus with bacteria in the airways can cause serious lung damage, including the accumulation of scar tissues in the lungs, called fibrosis and cyst formation. Also, it can provoke abnormal work of the digestive system, by blocking the intestine and pancreas that are the reason for diarrhea, poor growth, weight loss, and diabetes is known as cystic fibrosis-related diabetes mellitus (CFRDM). There are several ways to diagnose cystic fibrosis: sweat test, measuring salt quantity in the sweat, prenatal screening, newborn screening, and genetic testing. (Ratjen F,2003)
At the molecular level, the reason for cystic fibrosis is mutations in the CFTR gene, the full name of which is “cystic fibrosis transmembrane conductance regulator”. “More than 1,000 mutations in the CFTR gene have been identified in people with cystic fibrosis”.² CFTR gene is located on chromosome 7. This gene is responsible for the synthesis of a protein called cystic fibrosis transmembrane conductance regulator that is composed of channels across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. The main function of these channels is to transport chloride ions into and out of cells. It is associated with the water movement in tissues which is an important requirement for the excretion of thin, freely flowing mucus. CFTR gene mutations prevent normal functioning and the flow of chloride ions and water through cell membranes and cause anomaly thick and sticky mucus production. These mutations cause changes in single protein building blocks, called amino acids in CFTR protein or remove a short amount of DNA from the CFTR gene. As a result, abnormal channels produced and breaks down quickly, so they don`t arrive at the cell membrane for chloride ions transporting. There are two working copies (alleles) of the CFTR gene in most people. Only one is needed to prevent cystic fibrosis. .