The mitochondrial genotype of heteroplasmic human cell lines containing the pathological np 3243 mtDNA mutation, plus or minus its suppressor at np 12300, has been followed over long periods in culture. Cell lines containing various different proportions of mutant mtDNA remained generally at a consistent, average heteroplasmy value over at least 30 wk of culture in nonselective media and exhibi...

Oxidative phosphorylation (OXPHOS), the intracellular process that generates the majority of the ATP of a cell through the electron-transfer chain, is highly dependent on proteins encoded by the mitochondrial genome (mtDNA). MtDNA replication is regulated by the nuclear-encoded mitochondrial transcription factor A (TFAM) and the mitochondrial-specific DNA polymerase gamma, which consists of a c...

The existence of reliable mtDNA reference sequences for each species is of great relevance in a variety of fields, from phylogenetic and population genetics studies to pathogenetic determination of mtDNA variants in humans or in animal models of mtDNA-linked diseases. We present compelling evidence for the existence of sequencing errors on the current mouse mtDNA reference sequence. This includ...

The Chk2-mediated deoxyribonucleic acid (DNA) damage checkpoint pathway is important for mitochondrial DNA (mtDNA) maintenance. We show in this paper that mtDNA itself affects cell cycle progression. Saccharomyces cerevisiae rho(0) cells, which lack mtDNA, were defective in G1- to S-phase progression. Deletion of subunit Va of cytochrome c oxidase, inhibition of F(1)F(0) adenosine triphosphatas...

The alteration of mitochondrial DNA (mtDNA) content could affect the expression of genes which causes many tumor diseases. However, the association between mtDNA content in peripheral blood mononuclear cell (PBMC) and hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC) remains undetermined. First of all, establishing a reliable assay to detect mtDNA content is of great clinical signi...

OBJECTIVE To study the impact of adipocyte differentiation on nucleoside reverse transcriptase inhibitor (NRTI)-mediated mitochondrial DNA (mtDNA) depletion and to correlate mtDNA depletion with the activity of the respiratory chain complexes. METHODS We studied adipocyte phenotype, viability, differentiation (CCAAT/enhancer-binding protein [C/EBP]-alpha and peroxisome proliferator-activated ...

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative condition which is almost universally fatal. Some sufferers have an identifiable genetic mutation (<2%), but the majority of cases are sporadic (SALS). There is a body of evidence suggesting involvement of oxidative stress and mitochondrial abnormalities in the pathogenesis of ALS. Mitochondrial function was assessed in remote tissues (...

Since the discovery that Leber hereditary optic neuropathy (LHON) results from mutations in mitochondrial DNA (mtDNA), considerable attention has been focused on this alternative genome and on development of the scientific tools needed to study this remarkable genetic pathway (1, 2). In this issue, Chen et al. (3 ) describe the application of temporal temperature gradient gel electrophoresis to...

ataxia-telangiectasia (at) is a rare human neurodegenerative autosomal recessive multisystem disease characterized by a wide range of features including progressive cerebellar ataxia during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. mitochondrial dna (mtdna) has the only non-...

friedreichs ataxia (frda) is an autosomal recessive neurodegenerative disorder caused by decreased expression of the protein frataxin. frataxin deficiency leads to excessive free radical production and dysfunction of chain complexes. mitochondrial dna (mtdna) could be considered a candidate modifier factor for frda disease, since mitochondrial oxidative stress is thought to be involved in the p...