Cystic fibrosis is a genetic disease that affects the lungs and digestive system. The Cystic Fibrosis Gene is responsible for this disease. This gene is found on chromosome 7. Cystic fibrosis occurs when there is a mutation in the Cystic Fibrosis Gene. This mutation can be passed down from parents to their children. Cystic fibrosis is a life-threatening disease. There is no cure for this disease. However, treatments are available to help people with this disease manage their symptoms and extend their life expectancy.
Cystic fibrosis is a hereditary, autosomal recessive disease that primarily affects the digestive system and lungs. This illness is more prevalent among Caucasians than any other race. Cystic fibrosis strikes approximately one in every 2,500 people worldwide, with one in every 25 being a heterozygote. With the use of antibiotics, a person suffering from CF can live up to thirty years longer if treated early enough; nevertheless, most individuals die before reaching adulthood due to antibiotic-resistant bacterial infections or genetic conditions that are not responsive to treatment.
Because so many individuals are affected by this ailment, it’s no surprise that CF was the first human genetic condition to be cloned by geneticists. In this paper, I’ll concentrate on how the cystic fibrosis gene was discovered and discuss the protein fault in the CF gene, bio-chemical defects related to CF, and potential treatment options for CF.
Cystic fibrosis is caused by a mutation in the CFTR gene. The CFTR gene encodes for a protein that functions as a chloride channel. This protein is found on the surface of cells that line the lungs, pancreas, and other organs. The chloride channel regulates the flow of water in and out of these cells. In people with cystic fibrosis, the CFTR protein is defective. As a result, chloride channels do not work properly. This causes the body to produce abnormally thick and sticky mucus. The mucus build-up leads to respiratory problems and digestive problems.
There are more than 1,700 known mutations in the CFTR gene. Most of these mutations result in little or no CFTR protein being produced. A small number of mutations cause the CFTR protein to be produced, but it does not function properly.
The exact symptoms and severity of cystic fibrosis vary from person to person. Cystic fibrosis can cause a wide range of problems, including:
– Respiratory problems: Cystic fibrosis can lead to breathing difficulties and damage to the lungs. This can eventually lead to respiratory failure.
– Digestive problems: Cystic fibrosis can cause blockages in the intestines, preventing food from being properly digested. It can also lead to inflammation of the pancreas, which interferes with the production of enzymes that help digest food.
– Nutritional deficiencies: Cystic fibrosis can cause malnutrition because of the digestive problems it causes.
– Cystic fibrosis related diabetes: Cystic fibrosis can damage the cells in the pancreas that produce insulin, leading to diabetes.
There is no cure for cystic fibrosis. However, there are treatments available to help manage the symptoms and improve quality of life. Treatment options include:
– Medications: There are a variety of medications available to help treat the symptoms of cystic fibrosis. These medications can help thin mucus, clear lung infections, and control inflammation.
– Pulmonary rehabilitation: This program includes exercises and breathing techniques to help strengthen the lungs and improve breathing.
– Nutrition therapy: A dietitian can help create a nutritious diet plan that meets the unique needs of people with cystic fibrosis.
– Surgery: In some cases, surgery may be necessary to treat complications of cystic fibrosis. For example, surgery may be needed to remove blockages in the intestines or to repair damage to the lungs.
Cystic fibrosis is a serious genetic disease that can cause a wide range of problems. There is no cure for cystic fibrosis, but there are treatments available to help manage the symptoms and improve quality of life. With early diagnosis and treatment, people with cystic fibrosis can enjoy a good quality of life.
The method of identification used in the past to locate the gene that causes a hereditary disease has been to first identify the bio-chemical fault inside the gene, then find the mutated protein within the gene of interest, and lastly discover the actual gene.
However, when looking for the CF gene, this conventional method was ineffective. The idea of reverse genetics was used to find the gene behind CF. Scientists did this by linking the disease to a specific chromosome and then isolating the gene of interest on that chromosome. They subsequently tested the product of the gene in question.
It was eventually determined that the CF gene is located on chromosome 7. Cystic fibrosis (CF) is a life-threatening genetic disease that affects the respiratory and digestive systems. People with CF have difficulty breathing and digesting food due to a build-up of thick, sticky mucus in their lungs and digestive tract. The Cystic Fibrosis Gene is responsible for causing this disease.
There are currently no cures for CF, but treatments are available to help manage the symptoms and improve quality of life. With early diagnosis and treatment, people with CF can now expect to live into their 30s, 40s, or even 50s. However, the Cystic Fibrosis Gene still poses a serious threat to the health of those who have it.
Prior to the disease being linked to a specific chromosome, a marker had to be discovered that would always accompany the disease. The restriction fragment length polymorphism, or RFLP for short, is such a marker. DNA sequence variations in different persons are known to travel with genetic diseases and are referred to as Restriction Fragment Length Polymorphisms (RFLPs).
Cystic Fibrosis was the first disease to ever be mapped to a specific chromosome through the use of RFLP’s. Cystic Fibrosis is caused by a mutated gene on chromosome 7 that encodes for the protein Cystic Fibrosis Transmembrane conductance Regulator or CFTR for short. This protein regulates the movement of salt and water in and out of cells. TheCFTR gene controls the production of an ion channel that is found in many different organs in the human body, including the lungs, liver, pancreas, and sweat glands.
In healthy individuals, this ion channel transports chloride ions across cell membranes. This process helps to thin mucus so that it can be cleared from the lungs. However, in people with Cystic Fibrosis, the CFTR protein is defective and chloride ions cannot be transported properly. As a result, mucus becomes thick and sticky and builds up in the lungs, pancreas, and other organs. Cystic Fibrosis is a hereditary disease that is passed down from parents to their children.
The other two probes, pCF1 and pCF2, contained ORFs. pCF1 was 1,800 base pairs long and pCF2 was 2,000 base pairs long. To test if either of these were the CF gene, they were inserted into plasmids and injected into E. coli bacteria. If the DNA inserted into the plasmid was the CF gene, then the bacteria would produce a protein that is only found in humans with Cystic Fibrosis. However, neither pCF1 nor pCF2 resulted in the production of this protein.
Although pCF1 and pCF2 did not directly result in the discovery of the Cystic Fibrosis gene, they did lead scientists to believe that the gene was located on chromosome 7. This area of research eventually resulted in the discovery of the Cystic Fibrosis gene in 1989.
Cystic Fibrosis is a genetic disease that is caused by a mutation in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. This gene provides instructions for making a protein called CFTR, which is involved in the transport of salt and water across cell membranes. The CFTR protein regulates the movement of chloride ions into and out of cells. Chloride ions are electrically charged atoms that are needed for the proper function of many organs and tissues, including the lungs and sweat glands.
Mutations in the CFTR gene lead to production of an abnormal CFTR protein. In people with Cystic Fibrosis, the CFTR protein is either missing or does not function properly. As a result, chloride ions cannot flow properly in and out of cells. This imbalance affects the movement of water across cell membranes, which alters the consistency of mucus and sweat.
The mutation that causes Cystic Fibrosis is most common in people of European descent. About 1 in every 3,600 babies born in the United States has Cystic Fibrosis. Cystic Fibrosis is less common in other populations, occurring in an estimated 1 in 17,000 babies born Hispanic descent and 1 in 31,000 babies of African descent. Cystic Fibrosis is also seen more often among Ashkenazi Jews, occurring in about 1 in 2,000 babies born to this population.