What does heteroplasmy mean?
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What does heteroplasmy mean?
Heteroplasmy is the presence of more than one mtDNA type in an individual (Melton 2004). Two or more mtDNA populations may occur between cells in an individual, within a single cell, or within a single mitochondrion.
Why is heteroplasmy unique only to the mitochondria?
In order for heteroplasmy to occur, organelles must contain a genome and, in turn, a genotype. In animals, mitochondria are the only organelles that contain their own genomes, so these organisms will only have mitochondrial heteroplasmy.
Is mitochondrial Heteroplasmy common?
Mitochondrial heteroplasmy is common in healthy human populations. Before the application of next-generation sequencing (NGS) technologies, most studies focused on the mtDNA control region and revealed that 6∼11.6% of the population carry heteroplasmy in this region (9–11).
What are the bottleneck cells?
The “genetic bottleneck” refers to a genetic quantity—an increase in cell-to-cell variability in mutant proportion. In humans and other animals, the genetic bottleneck is achieved in part (though likely not in full) by a “physical bottleneck” (described further below, and recently reviewed in Zhang et al., 2018).
What is the consequence of a bottleneck effect on species?
The bottleneck effect is an extreme example of genetic drift that happens when the size of a population is severely reduced. Events like natural disasters (earthquakes, floods, fires) can decimate a population, killing most individuals and leaving behind a small, random assortment of survivors.
What causes Melas syndrome?
Causes. MELAS is caused by mutations in mitochondrial DNA (mtDNA). Mutations affecting the genes for mtDNA are inherited from the mother. MtDNA that is found in sperm cells is typically lost during fertilization and as a result, all human mtDNA comes from the mother.
What is de novo disease?
A genetic alteration that is present for the first time in one family member as a result of a variant (or mutation) in a germ cell (egg or sperm) of one of the parents, or a variant that arises in the fertilized egg itself during early embryogenesis. Also called de novo variant, new mutation, and new variant.
