Honors Anatomy And Physiology : Cystic Fibrosis

Cystic Fibrosis is an inherited condition. However, the gene for Cystic Fibrosis is recessive and

Cystic fibrosis (CF) is an inherited disease that affects the lungs and digestive system (National Heart, Blood, and Lung Institute, 2013). CF is caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene located on chromosome 7q31 (Beery & Workman, 2012, p. 192). More than 1600 different mutations in this gene have been identified, but 70% of cystic fibrosis patients have the amino acid ΔF508 defect. This mutation occurs when the CFTR protein is missing three nucleotides at position 508 which codes for the amino acid phenylalanine essential to nutrition (Scott, 2013, p. 493).

To begin, cystic fibrosis is a genetic disease that causes persistent lung infections and limits the ability to breathe over time. It is an inherited disorder both parents have to be a carrier of the gene. Some people say if a both parents have the gene then their is a 50% chance that the mother will have a baby with the disorder. It affect the

​Cystic fibrosis is a disease that is continually affecting children and adults in the United States. This is an inherited and life-threatening disease which affects many organs in the body. According to the Center for Disease Control, there are an estimated 30,000 people affected by this disease today. There are also approximately 2,500 babies born each year with Cystic fibrosis and unfortunately there are millions of people unaware they even carry the gene for this disease.

Cystic Fibrosis is an inherited disease caused by mutations in a gene on 7th pair of chromosomes. Cystic Fibrosis is a chromosomal abnormality, meaning that one of the 23 pairs of chromosomes are not what they are supposed to be. A person without Cystic Fibrosis has a gene in chromosome 7, which produces a normal and substantial amount of protein called Cystic Fibrosis transmembrane regulator (CFTR), which in turn produces thin and watery mucus. A person with Cystic Fibrosis has a gene in chromosome 7, which produces either abnormal CFTR protein or no CFTR protein at all, which causes the body to produce thick and sticky mucus “A person with CF produces abnormal CFTR protein — or no CFTR protein at all, which causes the body to make thick,

Many tests may be performed before a person is ever diagnosed with Cystic Fibrosis. A newborn screening test can be done to check an infants’ blood sample for a certain component related to CF. Many other tests must be completed before diagnosis. A sweat test is necessary for confirmation of CF. If a sweat test is not completely accurate, genetic testing must be

What is Cystic Fibrosis? Cystic Fibrosis is a progressive genetic disease that causes persistent lung infections that limits you the ability to breath. The first ever case of CF was in 1938 by Dr. Dorothy Anderson a Pathologist. He found the disease to be caused by malnutrition Dr. Dorothy called the disease “Cystic Fibrosis of the Pancreas”. Cases of this disease in the 1950s where difficult because people never lived long enough to make it to elementary school. With the advances of technology over the years people with CF live long enough to make a family and finish their careers. Over the years scientist and doctors still have not found a cure for CF. Lung cancer is one of the most serious side effects of getting CF because of mucus getting clogged up in the lungs.

Cystic Fibrosis is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) which is located in the middle of chromosome 7. The CFTR gene encodes a protein of the same name. This protein functions as a “channel across the membrane of cells that produce mucus, sweat, saliva, tears and digestive enzymes” (Genetics Home Reference, 2015). The channel transports chloride ions which are negatively charged particles, in and out of cells which help in controlling the water movement in tissues to allow for the production of thin, feely flowing mucus, a substance that lubricates and lines the airways, digestive system, reproductive system and other tissues and

More than 1,700 mutations have been identified in this gene. This mutation occurs on chromosome 7, which is inherited two copies of the defective Cystic fibrosis gene from each parent. Both parents must have at least one copy of the defective gene.

Cystic fibrosis (CF) is a serious disease that is life-threatening. This disease is characterized by the buildup of thick mucous in the lungs due to a defective gene within the body. It is a disease that is genetic which means that it is passed down from one’s parents. The disease is genetic because patients with Cystic Fibrosis inherit a defective gene on chromosome 7. This gene is responsible for protein production and the moving of water and salt in and out of the body’s cells. If a person inherits on faulty CF gene from each parent the chances are very high that they will develop Cystic Fibrosis. If the person inherits only one faulty gene from their parents and one normal gene they are known as carriers of CF and usually develop no symptoms of the disease and usually end up living normal lives. However they can pass the faulty gene down to their children.

Although Cystic Fibrosis is a very rare disorder only affecting less than 20,000 people, it is still very severe. Cystic Fibrosis is a genetic disorder that causes harm to the lungs (repository system) and digestive system. Cystic Fibrosis is a chronic disorder that can last for someone’s entire life or for years. In order for someone to contract cystic fibrosis, both parents have to pass on the defective gene to their child. But, if the child only receives one copy of the gene, they will then become a carrier. Being a carrier of the gene they don’t have the diseases, but they can pass it down to their children. This disorder cannot be cured and affects the cells that produce mucus, sweat glands, lung cells, and etc. causing thick and sticky

Cystic fibrosis is an inherited life- threatening disorder that damages the lungs and digestive system. This disorder can also be known as Mucoviscidosis . Long- term issues include difficulty breathing, also coughing up sputum as a result from frequent lung infections. Sinus infections, poor growth, clubbing of the finger and toes, also infertility in men are other possible symptoms of this disorder. Different individuals may have different degrees of symptoms. Cystic fibrosis is an autosomal recessive disorder. Mutations in both copies of the gene for the protein cystic fibrosis transmembrane conductance regulatory (CFTR) is the cause of this. CFTR is involved in production of sweat, digestive fluids, and mucus. Secretions,

Cystic fibrosis is a disorder affecting approximately 30,000 U.S. citizens. Although this genetic disorder can affect anyone, whites tend to be at a greater risk of developing this disease. Also males and females seem to have an equal risk of developing cystic fibrosis (Gardner, 2007). Cystic fibrosis is passed onto offspring by a recessive mode of inheritance. After extensive analysis it is believed that there is a single cystic fibrosis locus located on human chromosome seven. Considering a multitude of data and factors such as tissue specificity and the predicted properties of the Cystic Fibrosis Transmembrane Conductance Regulator(CFTR) protein, it is theorized that CFTR is the direct cause of cystic

Cystic fibrosis comes from a mutated gene known as the CFTR gene which codes for a transmembrane protein. This protein allows ions such as chloride and bicarbonate to flow through it using energy such as ATP. “This gene is expressed in epithelia throughout the body and affects exocrine functions.” CF is an autosomal recessive gene. This means that if both parents are found to be carriers of a mutated gene, heterozygotes, and their offspring received both of the recessive genes then that offspring will have cystic fibrosis. Depending on how the mutated gene is inherited,there can be varying degrees of how cystic fibrosis is expressed. There are over 1,500 types of CFTR mutations but the

Cystic Fibrosis is caused by a genetic defect in Chromosome 7. Chromosome 7 encodes the cystic fibrosis transmembrane conductance regulator, also known as CFTR. There are over 1,000 mutations of this gene causing cystic fibrosis, with each mutation manifesting as a different variation of disease onset and clinical presentation. The most common mutation is the loss of phenylalanine residue at deltaF508. The abnormal functioning CFTR causes impaired chloride transport and more viscous secretions. The defect causes dehydrated secretions in the respiratory tract and gastrointestinal tract. Being dehydrated, these secretions become more difficult to move throughout the body. Along with impaired