One caveat is that the authors also observed that one of the eight human embryonic stem cell lines established following spindle transfer showed a drift in
mitochondrial heteroplasmy in a subset of stem cells, despite low levels of carryover detected in the embryo.
A population phylogenetic view of
mitochondrial heteroplasmy Wilton, P.R., A. Zaidi, K. Makova, R. Nielsen.
A mitochondrial heteroplasmy occurs when an individual carries copies of mtDNA with different alleles.
The results demonstrate a high frequency of
mitochondrial heteroplasmy, being heteroplasmic a 61 % of the individuals analysed.
Mitochondrial heteroplasmies can be present at very low frequencies where they are difficult to distinguish from sequencing error.
Not exact matches
We detected the presence of
heteroplasmy at highly stable positions of the
mitochondrial genome.
A study concerning the evolution of
mitochondrial DNA, performed by researchers from the Universitat Autònoma de Barcelona (UAB), has allowed to determine the frequency and pattern of
heteroplasmy in the complete
mitochondrial genome using a representative sample of the European population.
In this study, researchers Amanda Ramos, Cristina Santos and Maria Pilar Aluja, from the Unit of Biological Anthropology of the UAB, determined the frequency and pattern of
heteroplasmy in the complete
mitochondrial genome of 101 unrelated healthy individuals, which are representative of the European population.
The study of
heteroplasmy is proving to be useful in the study of mutation patterns, the role of selection and the
mitochondrial DNA recombination in mammals.
A recent examination of
heteroplasmy in
mitochondrial DNA from 1085 individuals found that 90 % carried at least one variant genome, and 20 % had sequence variants known to be pathogenic [20].
We investigated whether haplogroup, single nucleotide polymorphisms (SNPs), or
heteroplasmy of
mitochondrial DNA (mtDNA) were associated with health status and / or symptoms.
No reports have examined the degree of
heteroplasmy (presence of more than one type of
mitochondrial genome) in ME / CFS patients vs. controls.
Do people with ME / CFS carry more copies of
mitochondrial DNA with harmful mutations than healthy people (
heteroplasmy)?