The mitochondrial genome

Abstract The human mitochondrial genome consists of approximately 1500 genes, 37 encoded by the maternally inherited mitochondrial DNA (mtDNA) and the remainder encoded by the nuclear chromosomes. Mutation in the nDNA genes result in Mendelian diseases that affect mitochondrial function or mtDNA replication and stability. Mutations in the mtDNA include ancient adaptive polymorphisms, maternally inherited diseases, and somatic mutations that contribute to age‐related diseases, aging, and cancer.