【論文摘要】Analysis of Mutations in Mitochondrial Genome in Intima-medial Layer of Patients with Atherosclerosis from the Novosibirsk Region

Alexander N. Orekhov ； Anastasiya I. Ryzhkova ； Vasily V. Sinyov ； Marina D. Sazonova ； Zukhra B. Khasanova ； Natalya A. Doroschuk ； Vasily P. Karagodin ； Igor A. Sobenin ； Margarita A. Sazonova

《海峽循環醫學雜誌》 1卷2S期 (2019/09) Pp. 145-145

https://doi.org/10.6907/SCJ.201909/SP_1(2).0118

摘要

Background/Synopsis: Background: Somatic mutations of mtDNA could be the trigger for a lot of disease including atherosclerosis.Previous study have shown several mtDNA mutations and its heteroplasmy level are associated with thethickened the intima-medial layer of carotid arteries (IMT CA) insamples of study participants from Moscow region. Objectives/Purpose: Objectives: The aim of the study was to compare the range of mitochondrial genome mutations associated with the IMT CA in samples of study participants from the Novosibirsk and Moscow region. Methods/Results: Methods: The sample from the Novosibirsk region consisted of 235 patients with carotid atherosclerosis and 246 conventionally healthy study participants. A collection of whole blood samples from study participants was used to isolate total DNA, PCR and pyrosequencing. The analysis of the heteroplasmy level in mutations mtDNA m.652insG, m.652delG, m.1555A＞G, m.3256C＞T, m.3336T＞С, m.5178C＞A, m.12315G＞A, m.13513G＞A, m.14459G＞A, m.14846G＞A and m.15059G＞A was carried out using the quantitative method, developed by M. A. Sazonova and colleagues. Results: A significant positive correlation of mtDNA mutations m.12315G＞A, m.15059G＞A, m.3256C＞T andm.5178C＞A with the IMT CA in a sample of study participants from the Novosibirsk region was revealed. Mutations m.13513G＞A and m.14846G＞A have a significantly negative correlation with IMT CA in the studied individuals. Conclusion: Conclusion: Mutations m.12315G＞A and m.15059G＞A have a significantly positive correlation with IMT CA in both Novosibirsk and Moscow regions. At the same time, one nucleotide replacements m.13513G＞A and m.14846G＞A have a significantly negative correlation with IMT CA in both investigated regions. However, mutationsm.3256C＞T and m.5178C＞A in the Novosibirsk region correlate positively with IMT CA at the level of significance p≤0,05, and in the Moscow region they correlate at the level of significance p≤0,1.