Research Article
mtDNA in the Pathogenesis of Cardiovascular Diseases
Table 1
Cardiovascular diseases associated with pathogenic mtDNA mutations.
| Mutation type | Mutant gene mutations in the genes | Disease | Reference |
| Basepair substitution | mtDNA A4401G | Hypertension | [50] | mtDNA T14484G | [51] | tRNA genetic mutation | tRNAMet m.A4435G tRNALeu m.A3243G tRNALeu m.A4263G tRNALeu m.T4353C tRNAPhe m.C593T tRNATrp m.C5553T tRNAGlc m.T4353C tRNAIle m.T4291C tRNALeu m.T3253C tRNAAla m.A5655G | [52–58] | mRNA mutation | m.A8701G in ATP6 | [59] | tRNA genetic mutation | tRNAThr m.G15927A tRNAPhe m.T5592C tRNALeu m.A3243G | Coronary atherosclerotic disease | [60] | mtDNA deletion | mtDNA4977bp Deletion | [61] | Basepair substitution | mtDNA T16189C | [62] | mtDNA deletion | mtDNA4977bp Deletion | Arrhythmia | [63] | Basepair substitution | mtDNA T14709C | Cardiomyopathy | [64] | tRNA genetic mutation | tRNAAlle m.4322dupC | [65] | tRNALeu m.A3243G | [66] | mtDNA rearrangement deletion | 7.5 KB deletion between ATPASE6 gene and D loop | [67] | mtDNA7436bp Deletion | [67] | tRNA genetic mutation | tRNALeum.A3243G | Heart failure | [68] |
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