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What is Cellular and Molecular Basis of McArdles disease

User Roysh
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McArdle's disease is a rare genetic disorder that affects the muscles' ability to generate energy. It is caused by a deficiency of the enzyme glycogen phosphorylase, which leads to impaired muscle function and energy production. The cellular and molecular basis of the disease involves the inability of muscle cells to break down glycogen and generate glucose for energy.

Step-by-step explanation:

McArdle's disease is a rare genetic disorder that affects the muscles' ability to generate energy. It is caused by a deficiency of the enzyme glycogen phosphorylase, which is responsible for breaking down glycogen into glucose for energy production. Without this enzyme, individuals with McArdle's disease experience muscle cramps, fatigue, and exercise intolerance.

The cellular and molecular basis of McArdle's disease involves the inability of muscle cells to break down glycogen and generate glucose for energy. This is due to a mutation in the PYGM gene, which encodes the glycogen phosphorylase enzyme. As a result, glycogen accumulates in the muscle cells, leading to impaired muscle function and energy production.

The molecular basis of McArdle's disease can be further explained by the role of glycogen phosphorylase in the glycolytic pathway. Glycogen phosphorylase catalyzes the breakdown of glycogen to glucose-1-phosphate, which can then be converted to glucose-6-phosphate and further metabolized to generate ATP, the energy currency of cells. In McArdle's disease, the lack of glycogen phosphorylase prevents this energy-generating process, leading to the symptoms associated with the disorder.

User Danny Hurlburt
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