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Anti-mitochondrial antibodies (AMA) are autoantibodies, consisting of immunoglobulins formed against mitochondria, primarily the mitochondria in cells of the liver.mmunofluorescence staining pattern of AMA shown on stomach (top left), liver (top right), kidney (bottom left) and hep-20-10 cells (bottom right). Primary biliary cirrhosis is seen primarily in middle-aged women, and in those afflicted with other autoimmune diseases.
Phenocopies of Mitochondrial Disease. The converse is also true: different mutations in mtDNA and nDNA can lead to the same diseases. In genetics, these are known as phenocopies. A good example is Leigh syndrome, which can be caused by about a dozen different gene defects.itochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth.