title: Mosaicism of mitochondrial genetic variation in atherosclerotic lesions of the human aorta.
abstract: OBJECTIVE
  The aim of the present study was an analysis of heteroplasmy level in mitochondrial mutations 652delG, A1555G, C3256T, T3336C, 652insG, C5178A, G12315A, G13513A, G14459A, G14846A, and G15059A in normal and affected by atherosclerosis segments of morphologically mapped aortic walls.
  
  
  METHODS
  We investigated the 265 normal and atherosclerotic tissue sections of 5 human aortas. Intima of every aorta was divided according to morphological characteristics into segments with different types of atherosclerotic lesions: fibrous plaque, lipofibrous plaque, primary atherosclerotic lesion (fatty streak and fatty infiltration), and normal intima from human aorta. PCR-fragments were analyzed by a new original method developed in our laboratory on the basis of pyrosequence technology.
  
  
  RESULTS
  According to the obtained data, mutations G12315A and G14459A are significantly associated with total and primary atherosclerotic lesions of intimal segments and lipofibrous plaques (P ≤ 0.01 and P ≤ 0.05, accordingly). Mutation C5178A is significantly associated with fibrous plaques and total atherosclerotic lesions (P ≤ 0.01). A1555G mutation shows an antiatherosclerotic effect in primary lesion in lipofibrous plaques (P ≤ 0.05). Meanwhile, G14846A mutation is antiatherogenic for lipofibrous plaques (P ≤ 0.05).
  
  
  CONCLUSIONS
  Therefore, mutations C5178A, G14459A, G12315A, A1555G, and G14846A were found to be associated with atherosclerotic lesions.
authors.affiliation: Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, 8 Baltiyskaya Street, Moscow 125315, Russia ; Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex, 15a 3rd Cherepkovskaya Street, Moscow 121552, Russia.
authors.forename: Margarita A
authors.initials: MA
authors.lastname: Sazonova
authors.affiliation: Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex, 15a 3rd Cherepkovskaya Street, Moscow 121552, Russia.
authors.forename: Vasily V
authors.initials: VV
authors.lastname: Sinyov
authors.affiliation: Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex, 15a 3rd Cherepkovskaya Street, Moscow 121552, Russia.
authors.forename: Valeria A
authors.initials: VA
authors.lastname: Barinova
authors.affiliation: Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, 8 Baltiyskaya Street, Moscow 125315, Russia.
authors.forename: Anastasia I
authors.initials: AI
authors.lastname: Ryzhkova
authors.affiliation: Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex, 15a 3rd Cherepkovskaya Street, Moscow 121552, Russia.
authors.forename: Andrey V
authors.initials: AV
authors.lastname: Zhelankin
authors.affiliation: Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex, 15a 3rd Cherepkovskaya Street, Moscow 121552, Russia.
authors.forename: Anton Y
authors.initials: AY
authors.lastname: Postnov
authors.affiliation: Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, 8 Baltiyskaya Street, Moscow 125315, Russia ; Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex, 15a 3rd Cherepkovskaya Street, Moscow 121552, Russia.
authors.forename: Igor A
authors.initials: IA
authors.lastname: Sobenin
authors.affiliation: Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, 8 Baltiyskaya Street, Moscow 125315, Russia ; Faculty of Medicine, School of Medical Sciences, University of New South Wales, Sydney, Kensington, NSW 2052, Australia ; School of Medicine, University of Western Sydney, Campbelltown, NSW 2560, Australia.
authors.forename: Yuri V
authors.initials: YV
authors.lastname: Bobryshev
authors.affiliation: Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, 8 Baltiyskaya Street, Moscow 125315, Russia ; Institute for Atherosclerosis Research, Skolkovo Innovation Centre, Moscow 121552, Russia.
authors.forename: Alexander N
authors.initials: AN
authors.lastname: Orekhov
mesh_terms: D000328:Adult; D000368:Aged; D001011:Aorta / Q000473:pathology; D050197:Atherosclerosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D056726:Genetic Association Studies; D054629:Genome, Mitochondrial / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics; D009030:Mosaicism; D009154:Mutation / Q000235:genetics*; D058226:Plaque, Atherosclerotic / Q000235:genetics* / Q000473:pathology; D017539:Tunica Intima / Q000473:pathology
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