Mitochondrial DNA (mtDNA) copy numbers fluctuate over time due to stochastic cellular dynamics. Understanding mtDNA dynamics and the accumulation of mutations is vital for understanding mitochondrial-related diseases. Here, we use stochastic modelling to derive general results for the impact of cellular control on mtDNA populations, the cost to the cell of different mtDNA states, and the optimi...

Populations of physiologically vital mitochondrial DNA (mtDNA) molecules evolve in cells under control from the nucleus. The evolution of populations of mixed mtDNA types is complicated and poorly understood, and variability of these controlled admixtures plays a central role in the inheritance and onset of genetic disease. Here, we develop a mathematical theory describing the evolution of, and...

Mitochondrial disorders are a group of complex and heterogeneous diseases that may be caused by molecular defects in mitochondrial genomes. Pathogenic mitochondrial DNA (mtDNA) mutations are usually present in the heteroplasmic form. The degree of mtDNA mutation heteroplasmy varies among different tissues. Thus, it is important to detect and quantify the degree of mutation heteroplasmy of mtDNA...

Mutations, deletions, and changes in copy number of mitochondrial DNA (mtDNA), are observed throughout cancers. Here, we survey mtDNA copy number variation across 22 tumor types profiled by The Cancer Genome Atlas project. We observe a tendency for some cancers, especially of the bladder, breast, and kidney, to be depleted of mtDNA, relative to matched normal tissue. Analysis of genetic context...

It is textbook knowledge that the small multicopy mitochondrial genome (mtDNA) is maternally inherited in humans and mammals [1,2]. The uniparental mtDNA inheritance applies to most eukaryotic organisms, including animals exhibiting the doubly uniparental inheritance, such as the bivalve mollusks [3,4]. Occurrence of paternal mtDNA transmission has also been documented [5–7], and doubts on stri...

Most eukaryotes show uniparental inheritance of mitochondrial DNA (mtDNA). In this issue of Developmental Cell, DeLuca and O'Farrell (2012) show that active elimination of mtDNA during sperm development in Drosophila ensures that mature spermatozoa are devoid of DNA.

BACKGROUND Mitochondrial DNA (mtDNA) in peripheral blood mononuclear cells (PBMCs) has been suggested as a potential marker of mitochondrial toxicity associated with nucleoside analogue reverse-transcriptase inhibitor-containing therapy. METHODS We quantified mtDNA and mitochondrial RNA (mtRNA) in PBMCs over the course of 48 weeks in 78 patients infected with human immunodeficiency virus type...

The purpose of this study was to evaluate the impact of mitochondrial DNA (mtDNA) on radiation sensitivity under hypoxic conditions. The cell lines used were rho+ and rho0, which carry wild-type mtDNA and no mtDNA, respectively. The rho0 cells do not utilize oxygen because they lack the capacity to carry out oxidative phosphorylation. To confirm the role played by mtDNA in different cell lines,...

OBJECTIVE Mitochondrial DNA (mtDNA) damage is present in murine and human atherosclerotic plaques. However, whether endogenous levels of mtDNA damage are sufficient to cause mitochondrial dysfunction and whether decreasing mtDNA damage and improving mitochondrial respiration affects plaque burden or composition are unclear. We examined mitochondrial respiration in human atherosclerotic plaques ...

The decrease in the copy number of mitochondrial DNA (mtDNA) in cancer tissues might be associated with a decrease in oxidative mtDNA damage to achieve cancer immortalization and progression. Lung cancer specimens were collected from 29 patients with stage III non-small cell lung cancer (NSCLC) after neoadjuvant chemotherapy followed by surgical resection. The relative mtDNA copy number and the...