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. 2011 Aug;30(8):508–525. doi: 10.5732/cjc.011.10267

Figure 2. Human mitochondrial DNA (mtDNA) map and mutations in cancers related to metabolism.

Figure 2.

The human mitochondrial genome Is a 16.5 kb double-stranded circular DNA, which contains 37 genes: 13 polypeptides that are components of the electron transport complexes (ETC), 22 tRNAs, and 2 ribosomal RNAs. Mutations at the 13 ETC-encoding genes may cause alterations of the respiratory chain activity and thus affect metabolism. Each box linked to a particular mitochondrial gene region contains a partial list of mutations that have been identified in that specific mtDNA in human cancers, with the specific cancer types indicated. The numbers represent the locations of the mutated bases (C, cytosine; G, guanine; T, thymine; A, Adenine). Note that the two adjacent genes for ATPase6 and ATPase8 are shown in a single box.