Cystic Fibrosis : A Genetic Disorder

Cystic fibrosis is an existence restricting autosomal recessive disorder that influences 70,000 people around the world. The condition is known to affect principally those of European descent, though cystic fibrosis has been accounted for in all races and ethnicities. [12] Unusually viscous emissions in the airway of the lungs and in ducts of the pancreas in people with cystic fibrosis cause hindrances that prompt aggravation, tissue harm and destruction of both organ systems. Studies show that Cystic Fibrosis is more prominent in White Americans than African Americans, and Hispanics. A large number of Americans are carriers of this mutated Cystic Fibrosis gene, however if an individual is affected they must acquire two of these genes keeping

Cystic Fibrosis is a genetic disease which is progressive and limits breathing ability. The lungs and other organs are affected by a thick buildup of mucus. This mucus traps bacteria which leads lung damage, infections, and respiratory failure. The digestive enzymes being released is prevented, affecting the breakdown of food and nutrients being absorbed. ?More than 30,000 children and adults in the United States have Cystic Fibrosis. 70,000 people worldwide.? (Diagnosed With Cystic Fibrosis, Cystic Fibrosis Foundation) Someone who has Cystic Fibrosis have a defective gene from each parent which produces faulty protein. The CFTR gene is the gene that is mutated causing this. The channel that transports chloride in and out of cells is created by instructions that are created by CFTR gene. The regulation of chloride ions and water are prevented creating the thick mucus formed on the passageways of lungs, pancreas, and other organs. Cystic Fibrosis doesn?t cause learning problems are mobility of the person. Babies with this still develop and grow up normally. The average life expectancy is close to 40 years, and has been increasing in the last fifty years thanks to improved care. ?Chronic coughing, recurring chest colds, wheezing, shortness of breath, frequent sinus infections, and allergies that last all year, are the most common symptoms of Cystic Fibrosis.? (Cystic Fibrosis Symptoms) Since this disease is progressive

Cystic fibrosis is a genetic disease that is programmed in the victim’s DNA. It is passed on from parents who are both carriers of the defective gene. This genetic disorder affects the respiratory and digestive systems. People who suffer from cystic fibrosis usually inherit a defective gene on chromosome 7 called CFTR (cystic fibrosis transmembrane conductance regulator). Below is a diagram showing how cystic fibrosis is passed on from carrier parents to a child. The diagram shows that when a child is born by two parents who are both carriers of the CFTR defective gene, there is a one in four chance of being born with cystic fibrosis, there is a 2 in 4 chance of being a carrier or a 1 in

Cystic Fibrosis is an inherited recessive gene which means the disorder won’t affect anyone that’s a carrier. To obtain Cystic Fibrosis there are two ways, either, one parent is a carrier and the other has it (provided the parent with Cystic Fibrosis is female), or both parents are carriers. Parents can find out if they are carriers for Cystic Fibrosis with the use of genetic testing. When both parents are carriers for Cystic Fibrosis there a 25% chance the child will have Cystic Fibrosis, a 50% the child will be a carrier, and a 25% chance the child will not have Cystic Fibrosis nor be a carrier for it. In the United States there is about 30,000 reported cases of children and adults with Cystic Fibrosis, in the US there is an additional 1,000 cases reported each year, worldwide around 70,000 children and adults have Cystic Fibrosis. Cystic Fibrosis is the most common

Cystic Fibrosis cannot be developed or contracted it is something you’re born with. CF is a recessive disease, it occurs when a child inherits one defective copy of the gene from each parent. This gene mutation is responsible for cystic fibrosis. ("Cystic fibrosis Canada," 2011) This gene is known as the CFTR gene ("www.medincinet.com," 1996). Reference Figure 3. The “gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have cystic fibrosis, the gene makes a protein that doesn't work right. This causes the thick, sticky mucus” ("www.medincinet.com," 1996).

​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.

According to Grossman (2005), Cystic Fibrosis also Known as “CF”, is a genetic or an inherited disorder develop due to a defect of cell protein function. An individual can inherit Cystic Fibrosis only when both parents meaning both the person’s father and mother are carriers of this dysfunctional gene. The abnormal cell protein that causes Cystic Fibrosis is known as CFTR or cystic fibrosis transmembrane regulator. This particular type of cell protein helps maintain a balanced movement of certain form of salt and water in the body’s cell. In Cystic Fibrosis, this movement of salt and water in and out of the body cells become impaired leading to a thickened mucus. The Cystic Fibrosis Foundation point out on his website that both boys and

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

The fundamental causes of cystic fibrosis is a defective, hereditary gene that one must receive from both parents. The CFTR gene, located on chromosome 7. Since cystic fibrosis is a genetic disease, the only way to cure it would be to fix the DNA that went astray. Currently,

Cystic fibrosis is a hereditary condition which “affects the cells that produce mucus, sweat, and digestive juices.” In cases of cystic fibrosis a defective gene causes these fluids to become thick instead of thin. These fluids lose their lubricating properties and can interrupt normal functions, especially in the lungs. The thick mucus can also cause digestive problems by blocking the essential digestive enzymes entering the small intestine from the pancreas (Mayo Clinic). It is inherited through “an autosomal recessive pattern”. Essentially meaning that both parents are carriers for the disease, but are unlikely to show symptoms themselves (GHR).

This disease is considered as inherited disease mostly among Caucasians, where approximately 1000 new cases are recorded every year. Latinos and American Indians are among the races most likely to acquire CF by genetic characters and less prevalent among African American. Statistics from the health agencies had recorded that there are more than 10 million Americans who have faulty CF gene carriers without them knowing it (Buckingham, 2012). Based on the Changing Epidemiology of Cystic Fibrosis reported by Simmons (1992) in Journal of Pediatrics, he said that from 17,857 patients treated with cystic fibrosis Foundation demonstrated a significant shift in the age distribution of patients. The adult patient population increased and in 1990s the median age range of patients with this disorder is 12.5 years old. Statistics revealed that among the surveyed patients, 90% of those belong to age 12 was diagnosed with CF. Median survival age doubled in later years from age 14 to 28 years. Females are found to have lower median survival age than males. Etiology The main cause of cystic fibrosis is hereditary where a carrier parents may transmit the faulty CFTR to her offspring, whereas if such gene is transferred to the child, the latter has the chance of 25 percent of developing CF. Experts claimed that if the child acquired the faulty CFTR gene from only one parent, say

Cystic fibrosis is an Autosomal Recessive Disorder. The mutation of the Cystic Fibrosis Transmembrane Regulator is what causes Cystic Fibrosis. Normally, in the cells, CFTR protein is a channel that allows cells to release chloride and other ions. In the case of an individual with Cystic Fibrosis, the protein is defective therefore cells do not release the chloride. For that reason, there is a thick, sticky mucus with individual with cystic fibrosis.

Cystic fibrosis is commonly inherited in the white population. It usually occurs in 1 of 2,500 infants and within this there are 1 in 25 who carriers of this disease. According to the UK CF Registry, there was a recorded 10,000 people who have cystic fibrosis (Registry Annual Data Report 2013; Cystic Fibrosis Trust, 2014). However, it is not as common in other ethnic groups.

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

For starter, What kind of disease is cystic fibrosis? Cystic fibrosis (CF) is an autosomal recessive disease of altered Cl- transportation which has a smaller prevalence in African Americans, Hispanics and Asian (O’Sullivan and Freedman, 2009). Since it is an autosomal disease, every cystic fibrosis patient needs to have two abnormal CFTR gene to manifest the characteristic of this disease. Cystic fibrosis is also the most common autosomal recessive disease in Caucasians with Northern European heritage (Oates and AMOS, 1994).