Mitochondrial disorders are a group of genetic disorders that affect the function of mitochondria, the energy-producing structures within cells. Mitochondria are often referred to as the “powerhouses” of the cells because they generate the majority of the energy needed for cellular activities.
Mitochondrial disorders can arise from mutations in either the nuclear DNA or the mitochondrial DNA (mtDNA). Most of the genetic material responsible for mitochondrial function is found in the nuclear DNA, while a small portion is contained within the mtDNA. Mutations in either can lead to mitochondrial dysfunction.
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