Words similar to heteroplasmic
Example sentences for: heteroplasmic
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In fact, heteroplasmic mtDNA ought to be relatively common, considering that human mtDNA mutates 10-20 times faster than nuclear DNA as a result of inadequate proofreading by mitochondrial DNA polymerases [ 4] and limited mtDNA repair capability.
At the present time, the T3197C nucleotide substitution is considered a polymorphism and it is not thought to have pathogenic significance by itself [ 31 ] . Although most pathogenic mutations are heteroplasmic, many homoplasmic mutations have been reported to have synergistic effects in the presence of other primary mutations [ 32 33 ] . The only difference in mtDNA between the affected child and the asymptomatic mother is the A189G mutation in the hypervariable D-loop region.
In order for a class Ia pathology to present itself, the mtDNA mutation must occur in a significant fraction of the heteroplasmic mtDNA population, as high as 60% for mtDNA deletions [ 9] (Ia-i) and even up to 95% for tRNA mutations (Ia-iii) [ 10].