Relaxed replication of mtDNA: a model with implications for the expression of disease

Article Abstract:

The insidious progression and late presentation of mtDNA diseases may be explained through a relaxed replication model. The model, based on experimentally developed parameters, provides simulations that show intracellular heteroplasmy can vary significantly in short time periods, allowing levels of mutant mtDNA to accumulate until a biochemical defect is expressed.

United States, Diseases, DNA, Pathology, Cellular, Cytopathology

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Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A ->G mutation in blood

Article Abstract:

The decrease in the proportion of the most common heteroplasmic pathogenic mitochondrial DNA (mtDNA) mutation, 3243A ->G in human blood is discussed. The results prove that the selection against pathogenic mtDNA mutations in the stem cell population leads to the observed phenomenon.

Science & research, Gene mutations, Gene mutation, Observations, Pathogenic microorganisms

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