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Sazonova MA, Zhelankin AV, Barinova VA, Sinyov VV, Khasanova ZB, Postnov AY, Orekhov AN, Bobryshev YV, Sobenin IA.

Front Genet. 2015 Mar 19;6:111. doi: 10.3389/fgene.2015.00111. eCollection 2015.


With aim of detection the spectrum of mitochondrial DNA mutations in patients with carotid atherosclerosis from Moscow Region, we used a Roche 454 high-throughput sequencing of the whole mitochondrial genome. We have found that the presence of a number of homoplasmic mitochondrial DNA mutations in genes of 16S ribosomal RNA, subunits 2, 4, and 5 NADH dehydrogenase, subunits 1 and 2 cytochrome C oxidase, subunit 6 ATP-synthase, tRNA- Leu 2 and cytochrome B differed between conventionally healthy participants of the study and patients with carotid atherosclerosis. We also found heteroplasmic mutations, including insertions one or several nucleotides, that occurred more frequently in mitochondrial DNA of conventionally healthy participants of the study or patients with atherosclerotic lesions.


atherosclerosis; mitochondria; mitochondrial genome; mutation; next generation sequencing


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