title: Mutations of mitochondrial genome in carotid atherosclerosis.
abstract: 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.
authors: Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology Moscow, Russia ; Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex Moscow, Russia.
authors: Margarita A
authors: MA
authors: Sazonova
authors: Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex Moscow, Russia.
authors: Andrey V
authors: AV
authors: Zhelankin
authors: Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex Moscow, Russia.
authors: Valeria A
authors: VA
authors: Barinova
authors: Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex Moscow, Russia.
authors: Vasily V
authors: VV
authors: Sinyov
authors: Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex Moscow, Russia.
authors: Zukhra B
authors: ZB
authors: Khasanova
authors: Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex Moscow, Russia.
authors: Anton Y
authors: AY
authors: Postnov
authors: Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology Moscow, Russia ; Institute for Atherosclerosis Research, Skolkovo Innovative Centre Moscow, Russia ; Department of Biophysics, Biological Faculty, Moscow State University Moscow, Russia.
authors: Alexander N
authors: AN
authors: Orekhov
authors: Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology Moscow, Russia ; Faculty of Medicine, School of Medical Sciences, University of New South Wales Sydney, NSW, Australia.
authors: Yuri V
authors: YV
authors: Bobryshev
authors: Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology Moscow, Russia ; Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex Moscow, Russia.
authors: Igor A
authors: IA
authors: Sobenin
keywords: atherosclerosis; mitochondria; mitochondrial genome; mutation; next generation sequencing