The mitochondrion is a highly specialized organelle, present in almost all eukaryotic cells and principally charged with the production of cellular energy through oxidative phosphorylation
Somatic mutations in mtDNA are also linked to other complex traits, including neurodegenerative diseases, ageing and cancer.
The mtDNA genome mutations can lead to energy and respiratory-related disorders such as myoclonic epilepsy with ragged red fiber disease, mitochondrial myopathy, encephalop
athy, lactic acidosis and stroke syndrome, and Leber's hereditary optic neuropathy
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.
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