Abstract
It has been suggested that mitochondrial dysfunction has an influence on lipid metabolism. The fact that mitochondrial defects can be accumulated over time as a normal part of aging may explain why cholesterol levels often are altered with age. To test the hypothesis whether mitochondrial variants are associated with lipid profile (total cholesterol, LDL, HDL, and triglycerides) we analyzed a total number of 978 mitochondrial single nucleotide polymorphisms (mtSNPs) in a sample of 2,815 individuals participating in the population-based KORA F4 study. To assess mtSNP association while taking the presence of heteroplasmy into account we used the raw signal intensity values measured on the microarray and applied linear regression. Ten mtSNPs (mt3285, mt3336, mt5285, mt6591, mt6671, mt9163, mt13855, mt13958, mt14000, and mt14580) were significantly associated with HDL cholesterol and one mtSNP (mt15074) with triglycerides levels. These results highlight the importance of the mitochondrial genome among the factors that contribute to the regulation of lipid levels. Focusing on mitochondrial variants may lead to further insights regarding the underlying physiological mechanisms, or even to the development of innovative treatments. Since this is the first mitochondrial genome-wide association analysis (mtGWAS) for lipid profile, further analyses are needed to follow up on the present findings.
Highlights
Cholesterol is a lipid which is vital for the normal functioning of the body [1]
The Cooperative Health Research in the Region of Augsburg (KORA) study is a series of independent population-based epidemiological surveys and follow-up studies of participants living in the region of Augsburg, in southern Germany, an area with demographic and socioeconomic characteristics roughly reflecting those of an average central European population
A more detailed figure for each genotyping chip and phenotype is provided in S1 Fig. No significant mitochondrial single nucleotide polymorphisms (mtSNPs) were obtained for total cholesterol (TC)
Summary
Cholesterol is a lipid which is vital for the normal functioning of the body [1]. Having an excessively high level of total cholesterol (TC) itself does not cause any symptoms, but it increases the risk of serious health conditions [2]. Cholesterol is carried around the body in the blood by PLOS ONE | DOI:10.1371/journal.pone.0126294. MtSNPs Associated with HDL Cholesterol and Triglycerides Levels. Environmental Health, which is founded by the German Federal Ministry of Education and Research and by the State of Bavaria. KORA research was supported within the Munich Center of Health Sciences (MC Health), Ludwig-MaximiliansUniversität, as part of LMUinnovativ. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
