Huntington’s Disease Background Huntington’s disease is inherited as an autosomal dominant disease that gives rise to progressive‚ elective (localized) neural cell death associated with choleric movements (uncontrollable movements of the arms‚ legs‚ and face) and dementia. It is one of the more common inherited brain disorders. About 25‚000 Americans have it and another 60‚000 or so will carry the defective gene and will develop the disorder as they age. Physical deterioration occurs over a period
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Cystic Fibrosis is caused by a fault in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7 at q31.2. For CF to be expressed‚ a faulty copy of the gene must be present at both alleles; autosomal recessive. Therefore both parents must be carriers of‚ or affected by the cystic fibrosis gene (fig. 1) for the gene to be passed on. If a person has one copy of the faulty allele (are heterozygous) they are carriers of the gene and can pass this allele on; if they possess
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Cystic Fibrosis Cystic Fibrosis‚ a very serious inherited genetic disease‚ is also known as CF and sixty-five roses. This disease affects one in every 3‚000 live births. It may first appear in a newborn‚ but can appear all the way up until a young adult. However‚ ten percent of most cases are apparent at birth. CF affects the lungs and causes a build-up of abnormally thick mucus which leads to chest infections‚ and CF also affects the reproductive system. Doctors do not know what causes the mucus
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CYSTIC FIBROSIS Lori Alley Erika Lemerande Nicole Carpenter Maureen Joseph June Reyes Clinical Description and Definition of the Disease. “Cystic Fibrosis is a life threatening‚ genetic disease that causes persistent lung infections‚ and progressively limits the ability to breathe” (“Cystic Fibrosis‚” n.d.). Pathophysiology and History of the Disease • Cystic Fibrosis is caused by defects in the cystic fibrosis gene. • Cystic Fibrosis was recognized over 400 years ago in Germany. • There is no
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Cause of Cystic Fibrosis Cystic Fibrosis is caused by a mutation in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. The CFTR gene codes for the CFTR protein which is a chloride ion channel belonging to the ABC (what does it stand for) transporter superfamily of proteins. The CFTR proteins are normally located on the apical plasma membrane of epithelial cells in the airways‚ lungs‚ skin‚ digestive organs (E.g. - the pancreas and intestine) and reproductive tracts (E.g. - sperm
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Christopher Smith Miss Chiu AP Bio CF Case Study March 19‚ 2015 Questions: 1. Currently‚ scientists believe that Cystic Fibrosis is caused by a defect in the CFTR gene causes cystic fibrosis (CF). This gene makes a protein that controls the movement of salt and water in and out of your body’s cells. In people who have CF‚ the gene makes a protein that doesn’t work well. This causes thick‚ sticky mucus and very salty sweat. Every person inherits two CFTR genes—one from each parent. Children
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On researching new developments in the treatment of cystic fibrosis‚ I came across a very interesting article: “Ribosomal Stalk Protein Silencing Partially Corrects the ΔF508-CFTR Functional Expression Defect.” In the article‚ Viet et al1 reveal the potential application of the silencing of RPL12 (Ribosomal Protein L12)‚ to correct the ΔF508-CFTR biogenesis defect. As you know‚ cystic fibrosis is caused by a defect in the CF transmembrane conductance regulator (CFTR gene)‚ or more specifically‚ mutations
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Question number 1 The disease cystic fibrosis causes the buildup of salts to occur outside the cells of the tissue that lines human lungs. The salt draws in water‚ creating sticky‚ thick mucus that causes chronic breathing difficulties and eventually death. Which cell organelle is most likely defective in this case‚ and why? Solution According the medical experiment‚ cystic fibrosis disrupts the normal functioning of epithelial cells whose working is to make sweet glands in various parts of body
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Cystic fibrosis is caused by a mutated gene‚ cystic fibrosis transmembrane conductance regulator. It’s a disease that changes the way your body makes mucus and sweat. It also changes how well your lungs‚ digestive system‚ and other body parts work. Cystic fibrosis causes your mucus to be too thick‚ or sweat to be too salty. Mucus that is too thick causes your lungs to clog and makes it hard to breathe. It can block your pancreas‚ so you can’t digest your food very well. I believe that cystic fibrosis
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Huntington’s Disease Huntington’s Disease (HD) is a hereditary neurological disorder of the central nervous system that causes progressive degeneration of cells in the brain. This degeneration causes the affected person to slowly loose the ability to move‚ communicate and think. People are born with this disease‚ but won’t develop symptoms until between the ages of 30 – 50. Although Huntington’s disease can be traced back to the Middle Ages‚ it was first described by American physician George
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