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HW 3 - BIO 100 6100 HW 3 1 What is Tay Sachs Disease a...

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BIO 100 / 6100 HW # 3 1. What is Tay Sachs Disease: a. Tay-Sachs disease is a genetic disorder inherited in an autosomal recessive pattern. The disease occurs when harmful quantities of a fatty acid derivative called a ganglioside accumulate in the nerve cells of the brain. 2. What is Cystic Fibrosis: a. Cystic fibrosis is a hereditary disease that affects the entire body, causing progressive disability and early death. Difficulty breathing and insufficient enzyme production in the pancreas are the most common symptoms. Thick mucous production as well as a low immune system results in frequent lung infections, which are treated, though not always cured, by oral and intravenous antibiotics and other medications. A multitude of other symptoms, including sinus infections, poor growth, diarrhea, and potential infertility result from the effects of CF on other parts of the body. Often, symptoms of CF appear in infancy and childhood. 3. What is PKU/ Phenylketonuria: a. PhenylKetonUria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylketones, which are detected in the urine. Left untreated, this condition can cause problems with brain development, leading to progressive mental retardation and seizures. However, PKU is one of the few genetic diseases that can be controlled by diet. A diet low in phenylalanine and high in tyrosine can bring about a nearly total cure. 4. What is Huntington Disease: a. Huntington's disease (HD), also known as Huntington disease and previously as Huntington's chorea and chorea maior, is a rare inherited neurological disorder affecting up to almost 8 people per 100,000. It affects 1 out of 20,000 people of Western European descent and 1 out of one million in people of Asian and African descent. It takes its name from the New York physician George Huntington who described it precisely in 1872 in his first medical paper. HD has been heavily researched in the last few decades and it was one of the first inherited genetic disorders for which an accurate test could be performed. Huntington's disease is caused by a trinucleotide repeat expansion in the Huntingtin (Htt) gene and is one of several polyglutamine (or PolyQ) diseases. This expansion produces an altered form of the Htt protein, mutant Huntingtin (mHtt), which results in neuronal cell death in select areas of the brain. Huntington's disease is a terminal illness. Huntington's disease's most obvious symptoms are abnormal body movements called chorea and a lack of coordination, but it also affects a number of mental abilities and some aspects of personality. These physical symptoms commonly become noticeable in a person's forties[citation needed], but can occur at any age. If the age of onset is below 20
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years then it is known as Juvenile HD. As there is currently no proven cure, symptoms are managed with various medications and care methods.
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