Pompe Disease

Pompe infirmity is a rare neuromuscular catching agony that tail end happen in infants, children, and adults that acquire a faulty cistron from their parents. The most common symptom of Pompe is progressive muscle-builder weakness. The muscle weakness is due to the build up of glycogen in the lysosomes. The glycogen continues to build and takes up so rattling much space that the muscle becomes damaged. Eventually the glycogen seeps break of the lysosome cause more damage to the other cells. This causes a individual to consecrate sever muscle weakness that worsens over time. The disorder is caused by a defect in the gene that is trusty for devising the enzyme cal take acid alpha-glucosidase (GAA). GAA is suppose to break go across glycogen in the lysosomes. In people suffering from Pompe, on that point is a omit of the GAA enzyme or it is completely missing, causing the glycogen to build up. This disease is best selled by a team up of specialists that deliv er the proper knowledge and care for the patients. The discovery of the GAA gene has led to a growing progress in perceptiveness the biological mechanisms and the GAA enzyme. According to the National Institute of Neurological Disorders and Stroke, ?an enzyme commutation therapy has been real that has shown, in clinical trials, to decrease heart size, curb linguistic rule heart function, improve muscle function, t unrivalled, and strength, and reduce glycogen accumulation.? thither is also a medicate called aglucosidase alfa that has been approved by the FDA to treat the disease. In an article from light Magazine, in 1996, a Dutch biotechnology firm plan to invest in a ease for milking rabbits. ?The company, called Pharming, has created a railway system of transgenic rabbits that secrete into their milk a potential drug for a rare human genetic disorder called Pompes disease.
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It had been suggested that giving patients a form of the GAA enzyme would help frustrate muscle deterioration. Due to scummy supplies of GAA, the theory could only be tested in cell cultures. Pharming decided to splice the GAA gene into the rabbit genome. The female rabbits can produce about one gram of the enzyme per liter of milk. The milking facility in Belgium should be coiffure sometime in 1998. deeds CitedMLearning astir(predicate) Pompe. Pompe Community. 2008. 2 Oct. 2008 . ?Milking Bunnies. Science Magazine. 6 Dec. 1996. 2 Oct. 2008 Pompe Disease study Page. National Institute of Neurological Disorders and Stroke. 25 July 2007. 2 Oct. 2008 . If you unavoidableness to get a full essay, order it on our website: OrderEssay.net

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