Complete mitochondrial genome of the blackspot seabream, Pagellus bogaraveo (Perciformes: Sparidae), with high levels of length heteroplasmy
in the WANCY region.
Loss of heteroplasmy
in the displacement loop of brain mitochondrial DNA in astrocytic tumors.
Mitochondrial DNA heteroplasmy
after human ooplasmic transplantation.
Moreover, Mutation Surveyor software also has 'Mutation Quantifier' function to quantify the wild type and variant alleles by calculating the peak proportions, which are suitable for variants associated with somatic mutations, heteroplasmy
, and mosaicism.
These findings could not be replicated in a recent study reporting a high frequency of heteroplasmy
in the human brain, which did however not change with age or with PD disease state .
Gyllensten, "MtDNA substitution rate and segregation of heteroplasmy
in coding and noncoding regions," Human Genetics, vol.
Di Mauro and Schon in 2001 defined the pathogenic criteria for mtDNA point mutations, which are absence in healthy control, alteration of an evolutionary conserved residue, heteroplasmy
, segregation with disease and correlation of heteroplasmy
degree with clinical severity and cell pathology as documented by single-fiber polymerase chain reaction (PCR), and demonstration of defects of mitochondrial protein synthesis and respiratory chain deficiencies affected tissues .
The majority of mtDNA mutations cause disease when the level of heteroplasmy
exceeds 70-80% .
jirovecii typing, it did not provide evidence for or against features such as diploidy or mitochondrial heteroplasmy
Because the tandem repeat motif "CGTGCGTACA" could cause heteroplasmy
, we removed them out the mitogenome sequence before analysis.
Other Limitations.--Mosaicism and low levels of heteroplasmy
for mitochondrial DNA variants may not be detected, depending on the depth of sequence coverage and limit of detection that is validated.