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To the Editor: The variant m.3243A>G is one of the most frequent causes of mitochondrial dysfunction and is responsible for myopathy, encephalopathy, lactic acidosis and stroke-like episodes and other phenotypes.… Click to show full abstract
To the Editor: The variant m.3243A>G is one of the most frequent causes of mitochondrial dysfunction and is responsible for myopathy, encephalopathy, lactic acidosis and stroke-like episodes and other phenotypes. Its degree of heteroplasmy (H) correlates with the severity of the disease and H levels can differ among tissues. The known decay of H in leukocytes with age has been represented by the exponential equation H = H0e , where H0 is at-birth (or age-corrected) heteroplasmy and t is age. I have proposed a new model (inverted-sigmoid), based on differential cell fitness due to stochastic mitochondrial segregation during stem cell division. The model is described by Equation (1):
Journal Title: Clinical Genetics
Year Published: 2019
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