Детекция уровня гетероплазмии мутации митохондриального генома g14459a в гомогенатах имтимы аорты человека
Year: 2013
Type: article
Study design: Observational Study
Abstract: Objective: The aim of this study was the pilot analysis of the heteroplasmy level for mutation G14459A of human mitochondrial genome. Materials and Methods: The DNA samples were isolated from total homogenates of normal and affected by atherosclerosis aortic intima of individuals by a method ofthe phenol-chloroform extraction. After PCR the amplificates were pyrosequenced to identify the percent of heteroplasmy. Results and discussion: A single nucleotide substitution G14459A was analyzed. The mutation is localized in the coding region ofthe mitochondrial genome, in particular, in the gene NADH dehydrogenase subunit 6. It causes a defect of the protein subunit of mitochondrial respiratory chain enzyme, leading to dysfunction of the NADH dehydrogenase and possibly to oxidative stress in the body. It was found that the level of heteroplasmy for this mutation is significantly higher in total homogenates of affected by atherosclerosis intima compared to homogenates of normal intima. Conclusion: According to the data resultingfrom the study, G14459A mutation is associated with atherosclerotic lesions of human aortic intima.
Source: Атеросклероз и дислипидемии
Language: Russian
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W11285335