Dr. Akabas and his colleagues wrote an article about the amino acid residues lining the chloride channel of the cystic fibrosis transmembrane conductance regulator, or CFTR. In 1994, the time when this essay was published, the structures and functions of the cytoplasmic domains have been extensively studied but very little was known about the 12 membrane spanning segments and their relationship to the chloride channel. Mutations in certain residues were also known to be associated with mild clinical
I was in the middle of traffic. It was 7:24 a.m. and I had to be in class in six minutes. After studying a significant amount of time, nerves were eating me alive because this exam would mark a stage in my life. My mind kept running, going over and over everything I had studied, thinking about physics, biology, and my worst nightmare; organic chemistry. Five minutes had gone by and I was almost at the location where my future would be defined. My vehicle was parked and my anxiety would not go away
Cystic Fibrosis is an autosomal recessive disease created by mutations in both copies of the cystic fibrosis transmembrane conductance regulator gene or the CFTR gene. This means a person must inherit the recessive gene from both parents to have cystic fibrosis. The CFTR gene codes for an ion channel protein that conducts chloride ions across the epithelial cell membranes of the passageways of the respiratory, digestive, and reproductive systems. Mutations of the transmembrane conductance regulator
Cystic Fibrosis is a chronic non-gender biased illness which affects the digestive system and the lungs. This condition also results in the buildup of mucus, which clogs in the respiratory system as well as the pancreas. Cystic Fibrosis occurs because a defective gene causes the body to excrete excessive sticky and thick mucus that clogs the lungs leading to a life-limiting lung infections. When these thick secretions obstruct the pancreas, they prevent the digestive enzymes from reaching the intestines
Desiree Smith 30104997 Cystic Fibrosis Cystic Fibrosis is an inherited disease characterized by the buildup of thick, sticky mucous that can cause severe damage to the body’s organs. Mucous is usually a slippery substance that lubricates and protects the linings of the airway, digestive system, reproductive system and other organs and tissue. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight-loss. Due to the abnormally thick mucous it can can clog airways, leading
While cystic fibrosis (CF) is not a new disease, there is still a lot to learn about it. In 1938 a pathologist, Dr Dorothy Andersen, provided the first clear description of cystic fibrosis. Before this time there had been reports of people that had the symptoms of someone with CF. During the seventeenth century children with the symptoms of CF were thought to be bewitched and their life expectancy was very short. Dr Dorothy Andersen gave this disease its name because cystic fibrosis refers to the
caused by mutations that make a gene function improperly. For example, when people say that someone has the cystic fibrosis gene, they are usually referring to a mutated version of the Cystic Fibrosis Transmembrane Conductance Regulator gene, which causes the disease. All people, including those without cystic fibrosis, have a version of the Cystic Fibrosis Transmembrane Conductance Regulator gene. While pregnancies with a trisomy (a baby which has receive an extra chromosome) or a monosomy (have a
Sciences 102, 4990-4995 22. Taylor, R. W., & Turnbull, D. M. (2005) Mitochondrial DNA mutations in human disease. Nature Reviews Genetics 6, 389-402 23. Thibodeau P. H., et al., (2010). The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis. J. Biol. Chem.285, 35825–35835 24. Transtutors.com. 2014. Gene Abnormalities and Disorders Help for Chromosomes - Transtutors. [online] Available at: http://www.transtutors.com/
Cystic Fibrosis is an autosomal recessive condition with roughly 1 in 30 Americans being carriers and 30,000 having the disease itself [1]. Its cause, generally speaking, is a mutation with a protein known as Cystic Fibrosis Transmembrane Conductance Regulator (CFTR.) Normally the CFTR protein is folded with the help of chaperone proteins, checked for mutaions by the endoplasmic reticulum and then moved to the apical surface of epithetical cells where it channels chloride ions out of epithelial
Cystic Fibrosis (CF) is the most common life threatening genetic condition in Australia. CF affects many of the body’s systems, including lungs and digestion. Improved medication and treatments have seen life expectancy extend considerably. (Cystic Fibrosis Queensland, 2014) In Australia, CF is one of the most widespread genetic disorders, particularly in the younger population. According to recent statistics – roughly, one baby is diagnosed with CF every four days, and approximately 50% of children
Cystic Fibrosis and Gene Therapy The average life span of a person with Cystic Fibrosis is 25-30 years of age. Although the more traditional treatments of this disease are adequate, is there something else that could be even better? Gene therapy is fast becoming one of the more studied aspects of genetics today. Let's take a look at some details of Cystic Fibrosis and gene therapy. Technical Aspects Cystic Fibrosis (CF) is the most common fatal genetic disease in the United States today
Use of Cloning in the Future Cloning is a popular topic of discussion on college campuses. There is research carried on in cloning in almost every part of the globe. The future of cloning looks very bright as the scientists are constantly progressing by leaps and bounds. However, it is not quite sure whether the future of cloning will help mankind or be the cause for its destruction. In “ The Unstoppable March of the Clones, ” John Gray talks about the future of cloning. He talks about the
Introduction to Microbiology Pathogen paper Vibrio cholera Nazarbayev University Taxonomy and Morphology Vibrio cholerae is a gram-negative bacterium which is causative agent for the diarrheal disease cholera. Vibrio cholerae is a member of the Vibrionaceae family, which is a facultative anaerobic and is capable of respiratory and fermentative metabolism. It does not form spores and its motility is due to the single polar flagellum. Vibrios are highly halophylic and are very sensitive