Pompe's disease is caused by mutations in the GAA gene, leading to a deficiency of the acid alpha-glucosidase (GAA) enzyme.
Here's a more detailed explanation:
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Genetic Mutation: The root cause of Pompe's disease is a genetic defect. Specifically, it arises from mutations in the GAA gene. This gene provides the instructions for creating the acid alpha-glucosidase (GAA) enzyme.
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Enzyme Deficiency: The GAA enzyme is crucial for breaking down glycogen, which is a stored form of glucose (sugar) used by the body for energy. This breakdown process happens within lysosomes, which are compartments within cells that act as recycling centers.
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Glycogen Accumulation: When the GAA enzyme is deficient or absent due to mutations, glycogen cannot be properly broken down. This leads to an abnormal buildup of glycogen within the lysosomes, particularly in muscle cells, including heart muscle and skeletal muscles.
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Cellular Damage: The excessive accumulation of glycogen damages the cells and interferes with their normal function. This damage to muscle cells results in the progressive muscle weakness (myopathy) and other symptoms characteristic of Pompe's disease.
In summary, mutations in the GAA gene cause a deficiency of the GAA enzyme, which leads to glycogen accumulation within lysosomes, resulting in cellular damage and the symptoms of Pompe's disease.
