Mitochondrial DNA heteroplasmy

Mitochondrial DNA (mtDNA) heteroplasmy refers to the presence of different versions of mitochondrial DNA within the same individual or cell. Since each cell contains many mitochondria, and each mitochondrion has multiple copies of mtDNA, some may carry normal genetic sequences while others have mutations. This mixture can influence how mitochondrial diseases develop and vary in severity, depending on the proportion of mutated to normal mtDNA. Heteroplasmy is important for understanding genetic conditions and how they are inherited, as the balance of these DNA variants can change over time and affect cell function.