Research Article

mtDNA in the Pathogenesis of Cardiovascular Diseases

Table 1

Cardiovascular diseases associated with pathogenic mtDNA mutations.

Mutation typeMutant gene mutations in the genesDiseaseReference

Basepair substitutionmtDNA A4401GHypertension[50]
mtDNA T14484G[51]
tRNA genetic mutationtRNAMet 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
[5258]
mRNA mutationm.A8701G in ATP6[59]
tRNA genetic mutationtRNAThr m.G15927A
tRNAPhe m.T5592C
tRNALeu m.A3243G
Coronary atherosclerotic disease[60]
mtDNA deletionmtDNA4977bp
Deletion
[61]
Basepair substitutionmtDNA T16189C[62]
mtDNA deletionmtDNA4977bp
Deletion
Arrhythmia[63]
Basepair substitutionmtDNA T14709CCardiomyopathy[64]
tRNA genetic mutationtRNAAlle m.4322dupC[65]
tRNALeu m.A3243G[66]
mtDNA rearrangement deletion7.5 KB deletion between ATPASE6 gene and D loop[67]
mtDNA7436bp
Deletion
[67]
tRNA genetic mutationtRNALeum.A3243GHeart failure[68]