Abstract
BackgroundSince both genomic and environmental factors are involved in obesity etiology, several studies about the influence of adiposity on both nuclear DNA and mitochondrial DNA methylation patterns have been carried out. Nevertheless, few evidences exploring the usage of buccal swab samples to study mitochondrial DNA epigenetics can be found in literature.MethodsIn this study, mitochondrial DNA from buccal swabs collected from a young Caucasian population (n = 69) have been used to examine potential correlation between mitochondrial DNA copy number and methylation with body composition (BMI, WHtR and bioimpedance measurements).ResultsA negative correlation between mitochondrial DNA copy number and BMI was measured in females (p = 0.028), but not in males. The mean percentage of D-loop methylation is significantly higher in overweight than in lean female subjects (p = 0.003), and a specific CpG located in the D-loop shows per se an association with impaired body composition (p = 0.004). Body composition impairment is predicted by a combined variable including mtDNA copy number and the D-loop methylation (AUC = 0.785; p = 0.009).ConclusionsThis study corroborates the hypothesis that mitochondrial DNA carries relevant information about body composition. However, wider investigations able to validate the usage of mtDNA methylation from buccal swabs as a biomarker are warranted.
Highlights
Since both genomic and environmental factors are involved in obesity etiology, several studies about the influence of adiposity on both nuclear DNA and mitochondrial DNA methylation patterns have been carried out
The aim of this study is to investigate if body composition affects copy number and methylation of mitochondrial DNA (mtDNA) extracted from buccal swab samples in a cohort of young Caucasian individuals
Kolmogorov–Smirnov test revealed that all the primary variables were normally distributed except for the variable describing mtDNA copy number and the combined predicted probability calculated to test the combined effect of mtDNA copy number and mtDNA methylation (CP*MH)
Summary
Since both genomic and environmental factors are involved in obesity etiology, several studies about the influence of adiposity on both nuclear DNA and mitochondrial DNA methylation patterns have been carried out. Mitochondrial epigenetics [21] and mtDNA copy number can play a relevant role in numerous health and disease conditions [22,23,24,25,26,27]. Each mitochondrion contains 2–10 mitochondrial DNA copies [24] and it has been demonstrated, for instance, that high mtDNA copy number in peripheral blood is associated with higher cognition in elderly women [28], while decreased mtDNA content precedes the onset of non-insulin-dependent diabetes mellitus [29]. Numerous studies identified that differences of mtDNA copy number are gender specific in both animal models and humans [30,31,32]
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