Heteroplasmy is the presence of more than one type of organellar genome (mitochondrial DNA or plastid DNA) within a cell or individual. It is an important factor in considering the severity of mitochondrial diseases.

Technically, heteroplasmy refers to the presence of more than one type of mitochondrial DNA (mtDNA) in an individual . Heteroplasmy is a copy-level mitogenome variation, and each cell, tissue, organ, and individual can be a reservoir of various variants .

2021年6月10日 · Heteroplasmy Bottom Line. You can suspect a heteroplasmy if you have full sequence matches, but no exact matches. If you have a heteroplasmy in the HVR1 region, understand that you may not have many or any matches in the HVR1 and HVR2 regions. The remedy is to test at the full sequence level and check matches there.

Heteroplasmy is a condition where two or more different variants of mtDNA coexist within a cell. This can refer either to the presence of two normal variants, i.e. different healthy mtDNA haplotypes, or to the presence of healthy and mutated mtDNA in the same cell.

In contrast, when there is a variation of the mtDNA sequence between different mtDNA molecules within an individual cell (i.e., there are two populations of mtDNA), this is known as heteroplasmy. Most pathogenic mtDNA mutations in humans are heteroplasmic.

The mean mtDNA heteroplasmy levels of the offspring were found to be similar to that of the founder mother, but the heteroplasmy levels of the individual offspring varied with the highest heteroplasmy levels being 29.6% in one pup (Jenuth et al. 1996).

Heteroplasmy is defined as a state in which more than one chloroplast or mitochondrial genotype occurs in an organism, a state that is widely found in land plants, algae, fungi, and animals (Gillham, 1994).

2023年11月20日 · This review focuses on the characteristics, dynamics, and functions of mtDNA heteroplasmy and proposes the concept of individual mitogene pools to discuss individual genetic diversity from multiple angles.

2015年8月18日 · The level of heteroplasmy can vary between cells in the same tissue or organ, from organ to organ within the same person, and between individuals in the same family.

Heteroplasmy can primarily occur through somatic mutagenesis during an individual’s lifetime and through leakage of paternal mtDNA in the zygote during fertilization. Recent studies, using modern sequencing techniques, have revealed that heteroplasmy due to somatic mutations might be prevalent among the individuals of a population [4,5,6,7 ...