Independent impacts of aging on mitochondrial DNA quantity and quality in humans

• DOI: 10.1186/s12864-017-4287-0
• Publication Date: 2017-11-21T01:18:51Z
• Authors: Ruoyu Zhang; Yiqin Wang; Kaixiong Ye; Martin Picard; Zhenglong Gu
• Keywords: Heteroplasmy

The accumulation of mitochondrial DNA (mtDNA) mutations, and the reduction mtDNA copy number, both disrupt energetics, may contribute to aging age-associated phenotypes. However, there are few genetic epidemiological studies on spectra blood heteroplasmies, distribution numbers in different age groups their impact age-related In this work, we used whole-genome sequencing data isolated peripheral mononuclear cells (PBMCs) from UK10K project investigate parallel heteroplasmy number 1511 women, between 17 85 years old, recruited TwinsUK cohorts. We report a high prevalence pathogenic heteroplasmies population. also find an increase with (β = 0.011, P 5.77e-6), showed that, average, individuals aged 70-years or older had 58.5% more than those under 40-years old. Conversely, decreased by average 0.4 copies per year −0.395, 0.0097). Multiple regression analyses that independent effects decrease accumulation. Finally, was positively associated serum bicarbonate level (P 4.46e-5), inversely correlated white cell count 0.0006). Moreover, aggregated load apolipoprotein B 1.33e-5), linking mutations physiological markers. Our population-based study indicates quality quantity influenced age. An open question for future is whether interventions would maintain optimal prevent expansion could promote healthy aging.