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A3243G
mtDNA |
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Donations welcome. |
An A to G point mutation
at position 3243 on the Mitochondrial DNA causes MELAS and MIDD. |
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An Introduction to Mitochondria.Mitochondria are the power house of the cell. They are present in virtually every cell in the body, with most cells containing about 2 to 10 Mitochondria, depending on the cells function. Mitochondria are an organelle inside the cell, about the size of an EColi bacterium. The function of the Mitochondria is driven by their history. They are the main site of production of ATP. Mitochondria contain two very different membranes; an outer one and an inner one, separated by an intermembrane space. The surface area of the inner membrane is greatly increased by a large number of infoldings, or Cristae, that protrude into the central space or Matrix. In nonphotosynthetic cells, the principal fuels for ATP production are fatty acids and glucose. The complete degradation of glucose to CO2 and H2O is coupled to the synthesis of up to 36 molecules of ATP. The initial stages of glucose degradation occur in the cytosol of the cell, where two ATP are generated. The terminal stages, including those involving phosphorylation coupled to final oxidation to Oxygen, are carried out by enzymes in the mitochondrial matrix and cristae. As many as 34 molecules of ATP are formed in the mitochondria, although this value can vary because much of the energy released in mitochondrial oxidation can be used for other purposes, (e.g. heat generation), making less energy available for ATP synthesis. Similarly, virtually all the ATP formed during the oxidation of fatty acids to CO2 is generated in the mitochondria. Thus, Mitochondria can be regarded as the power house of the cell.
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Author: Andy Collinson. Although I don't have any medical qualifications, as a sufferer of Diabetes, Deafness and Tinnitus caused by the A3243G mtDNA defect, I do have a very keen interest in the subject. Date Page Updated: 25 April 2005
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