Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism

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Abstract
From a diagnostic point of view it is noteworthy that the mitochondrial genome is highly variable, which in turn leads to difficulties in proving the pathogenic role of any particular heteroplasmic mtDNA mutation.6 Therefore, it has become common practice to provide correlation between the mutation load (degree of mtDNA heteroplasmy) and the biochemical pathology (for example, cytochrome c oxidase (COX) negativity) in individual muscle fibres or cybrids.

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