I have read some papers inorder to get a better understanding about heteroplasmy and homoplasmy in mtDNA. But I am still confused about the definition of heteroplasmy and homoplasmy . Could someone please give an easily undertanding explaination ? Thank you very much!
1 answer
Homo = Same (1 type)
Hetero = Different (>1 type)
A mammalian cell has a single nucleus which contains a single genome. The genomic DNA is identical across all cells in an organism.
A mammalian cell has many mitochondria and every mitochondria has its own (circular) genome. All the many individual copies of mtDNA exist independently of each other.
If all the mtDNA in a cell are identical, then they are homoplasmic. (Common, "normal" situation).
If one (or more) of the mtDNA in a single cell acquires a mutation, then the cell will have a mix of mutant-mtDNA and WT-mtDNA. These cells are now heteroplasmic.
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