A Brief Note On The Common Autosomal Recessive Genetic Disorder

Cystic fibrosis is a continuous, genetic disease that causes persistent lung infections and limits the ability to breathe over a period of time (Cystic Fibrosis Foundation). When an individual has cystic fibrosis, they tend to have lots of various lung problems. The overall cause of their lung problems is related to basic problems with diffusion and osmosis in the large airways of the lungs. The non-working cystic fibrosis proteins do not allow salt or water to enter the air space, resulting in the mucus layer to be extremely concentrated and very sticky. When you focus on individuals without cystic fibrosis, you can see that they have a small layer of salt water in the big airways of their lungs. This layer of salt water lies underneath

Cystic Fibrosis (CF) is an autosomal recessive genetic disease that causes thickened mucus to form in the lungs, pancreas, and other organs. It affects a specific protein called Cystic Fibrosis Transmembrane Regulator (CFTR) that controls the normal movement of sodium, chloride, and water in and out of the cells within the body. Those diagnosed with CF have either too little or abnormal CFTR. When CFTR is absent or defective, the mucus usually secreted by the cells in the pulmonary airways, pancreatic ducts, and gastrointestinal tract become thickened, leading to obstructions, frequent infection, and loss of function in the affected organs (Cystic Fibrosis Symptoms, Causes & Risk Factors, 2018). According to the Cystic Fibrosis Foundation

When the resistance of a fluid increases, the flow will decrease. One example of this is gravy and milk. Gravy has a greater resistance than milk and will take longer to flow out of a pitcher. The same can be said about respiratory therapy equipment. An increase in viscosity will decrease the flow. When

As mentioned before, the normal cell had an almost constant mass. However, it was not exactly constant because of various possible errors. One reason could be that the bag was not blotted properly every time. Another reason could be that the bag was not rinsed properly. In addition, another error we could have was the inconsistency of the percent change of masses in the cystic fibrosis cell. This could be explained by an inaccuracy with calibrate of the scale. Therefore, when repeating this experiment, one should blot the bag delicately so that the bag does not leak. To determine if the bag is leaking, measure the mass of the bag couple times. If the mass decreases, the bag is leaking.

What is Cystic Fibrosis? How does it affect people living with it? Cystic Fibrosis, also known as CF, is a life-threatening hereditary disease. It is inherited by a faulty cystic fibrosis transmembrane conductor (CFTR) gene from each parent (Kowalczyk, 2014, p. 74). This faulty gene makes a defective protein that does not work well and causes the body to produce sticky, thick mucus and very salty sweat("About CF: Causes, Signs & Symptoms of Cystic Fibrosis,"

For centuries, genetic diseases have raided the planet growing stronger and mutating faster every day. Scientists have been working hard to develop concoctions to reduce the crippling effects of these diseases; if not eradicate the harsh effects of these potentially deadly genetic conditions altogether. Among these numerous life threatening genetic diseases is cystic fibrosis (CF), an inherited lifelong condition that promotes the production of thick sticky mucus causing lung infections from the entrapment of various bacteria such as Pseudomonas aeruginosa.

Five year old Ellis Miles undergoes numerous treatments each day to counteract the symptoms that accompany cystic fibrosis including physiotherapy, pills containing digestive enzymes, and a treatment which breaks up the mucus in her lungs. Cystic Fibrosis has numerous life threatening symptoms and while there is no cure, there are several treatments that a typical patient undergoes each day to combat these symptoms. The most prominent symptom associated with Cystic Fibrosis is a thick mucus that clogs up tubes that carry out crucial roles in the human body. This mucus especially affects the respiratory tract. Mucus builds up in the respiratory tract making it difficult for individuals with cystic fibrosis to have a frequent cough that produces a thick

Cystic fibrosis is the most common lethal inherited disease, affecting about 30,000 patients worldwide. In the past decade, strides in patient management and the development of new pharmacological agents, coupled with scientific and technological advances, have increased the mean life expectancy of CF patients to approximately 30 years of age (approximately 50% of CF patients live to the age of 30). As early as 30 years ago, the median survival age was 8 years. Chronic lung infections, which lead to declines in lung function, remain the major cause of morbidity and mortality. While several pathogens have been implicated, Pseudomonas aeruginosa—an opportunistic and virulent bacterium—has an affinity for the

Cystic fibrosis is an acquired malady described by the development of thick, sticky bodily fluid. This bodily fluid can make harm a number of the body's organs. The most widely recognized signs and indications incorporate dynamic harm to the respiratory framework and interminable digestive framework issues. The seriousness and elements of Cystic fibrosis fluctuate amongst each influenced person. The bodily fluid that greases up and secures the linings of the aviation routes, digestive framework, the regenerative framework and different organs and tissues is unusually thick and sticky in patients with Cystic fibrosis. This can obstruct the aviation routes prompting serious breathing issues and bacterial diseases in the lungs. The bacterial

Those with cystic fibrosis often have a thick, sticky mucus that blocks the bronchi and alveoli which allow air in and out of the lungs. This mucus may cause:

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).

The type of mutation that causes Cystic Fibrosis occurs in the CFTR gene, or Cystic Fibrosis Transmembrane Conductance Regulator gene. This gene is important to the body because it helps provide channels that transport negatively charged particles (chloride ions) in and out of the cell. Chloride has an important role in the human body by how it controls the movement of water in tissue, which allows mucus to become thin. Mutations in the CFTR gene interrupts the function of the chloride channels. It makes the regulating process of the flow of chloride ions and water across the cell membranes not happen. This causes passageways to produce mucus that is very thick. The thick mucus causes these passageways to clog, and trap

The P1 cross was between four wmf females and nine wild-type males. The F1 progeny consisted of 12 wild-type females, and four triple-mutant males. The P2 cross resulted in 13 females, and 3 males, all with the wild-type phenotype (Table 1). The two parental crosses identify that the mutations are X-link recessive. The triple-mutant females of the P1 cross produce mutant male offspring, but wild-type females. The F1 females would be heterozygous for the mutations, but don’t express the mutations because they still have a wild-type X chromosome. However, the F1 males only have one X chromosome that comes from a mutant mother. The offspring for P1 were crossed again to make and F1 cross. The F1 cross would be X+/Y and X+/X. The F1 cross resulted in 100 F2 progenies over the course of 7 days.

movement of water in tissues and maintain the fluidity of mucus and other secretions [3].

Cystic Fibrosis (CF) is an autosomal recessive gene that causes a wide range of symptoms because there are over 1,000 changes or mutations that can occur within the cystic fibrosis transmembrane receptor (CFTR) protein. The CFTR protein is generally a chloride ion chain “regulated by cyclic adenosine monophosphate and therefore can act as a regulator of other electrolyte channels”(Grossman, S., & Grossman, L. 2005, p. 46). Typically this protein allows chloride ions to exit mucus-producing cells allowing water to flow in and thin the mucus. However, if the CFTR protein has been mutated, such as in cystic fibrosis, chloride ions cannot exit. This causes the mucus to thicken, become sticky, and obstruct the various channels it passes through. This build up of mucus also prevents bacteria from being cleaned from cells thoroughly increasing the patients risk for infections (Grossman, S., & Grossman, L. 2005). However, the severity of CF depends on whether the patients have complete or partial loss of the CFTR gene. If the person has the classic form of CF abnormalities of CFTR will commonly affect “…the respiratory, gastrointestinal, endocrine and metabolic, and genitourinary systems”(Schram, C. 2012). However, if people have atypical forms of CF their genetic disorder may only affect one of the organ systems and may not be found until the patient develops symptoms in their late childhood, early adolescence, or adulthood