Heteroplasmy

Heteroplasmy refers to the presence of different types of mitochondrial DNA (mtDNA) within the cells of an organism. Mitochondria, the energy-producing structures in cells, have their own DNA, separate from the cell’s nuclear DNA. When there are mutations in some but not all of the mitochondria, this mixed population is called heteroplasmic. The balance of normal and mutated mtDNA can affect cell function and may contribute to various diseases, particularly those impacting energy metabolism. Understanding heteroplasmy is important in studies of genetics, aging, and certain inherited conditions.