Mitochondrial DNA (mtDNA) mutations have been shown to be involved in several rare and complex diseases. This paper first presents a brief review on mitochondrial genetics, heteroplasmic mtDNA transmission and biological studies for diseases related to mtDNA mutations. Then we present a detail review on statistical methods for testing mtDNA mutation involvement in diseases and for estimating th...

the mitochondrial dna (mtdna) mutations in mitochondrial coding and non coding regions seem to be important in carcinogenesis. the aim of this investigation was to evaluate coding region (mt-trnaphe and trnapro) and non-coding sequence, mitochondrial displacement loop (mtdna d-loop), in the cancerous and non-cancerous lesions of iranian patients with breast cancer (bc). genomic dna was extracte...

BACKGROUND Mitochondrial disorders are associated with abnormalities of the oxidative phosphorylation (OXPHOS) system and cause significant morbidity and mortality in the population. The extensive clinical and genetic heterogeneity of these disorders due to a broad variety of mutations in several hundreds of candidate genes, encoded by either the mitochondrial DNA (mtDNA) or nuclear DNA (nDNA),...

The accumulation of somatic mitochondrial DNA (mtDNA) mutations contributes to the pathogenesis of human disease. Currently, mitochondrial mutations are largely considered results of inaccurate processing of its heavily damaged genome. However, mainly from a lack of methods to monitor mtDNA mutations with sufficient sensitivity and accuracy, a link between mtDNA damage and mutation has not been...

Recent studies have demonstrated that transgenic mice with an increased rate of somatic point mutations in mitochondrial DNA (mtDNA mutator mice) display a premature aging phenotype reminiscent of human aging. These results are widely interpreted as implying that mtDNA mutations may be a central mechanism in mammalian aging. However, the levels of mutations in the mutator mice typically are mor...

Mutations in mitochondrial DNA (mtDNA), especially tRNA (mt-tRNAs) genes, play important roles maternally inherited type 2 diabetes mellitus (T2DM), but the molecular mechanism remains unclear. In this study, two families with transmitted T2DM are underwent clinical, genetic and assessments. The mtDNA mutations screened by direct sequencing. Furthermore, phylogenetic conservation analysis patho...

Abstract Background and Aims Mitochondrial Diseases represent a heterogeneous set of maternally inherited diseases that arise by mutations either the mitochondrial DNA (mtDNA) or in genes nuclear (nDNA) linked to cell cross-talk. Many mtDNA code for different are wide spectrum kidney manifestations ranging from focal segmental glomerulosclerosis (FSGS), tubule-interstitial disease (TIN), nephro...

The human gene C10orf2 encodes the mitochondrial replicative DNA helicase Twinkle, mutations of which are responsible for a significant fraction of cases of autosomal dominant progressive external ophthalmoplegia (adPEO), a human mitochondrial disease caused by defects in intergenomic communication. We report the analysis of orthologous mutations in the Drosophila melanogaster mitochondrial DNA...

BACKGROUND A unique requirement for the molecular diagnosis of mitochondrial DNA (mtDNA) disorders is the ability to detect heteroplasmic mtDNA mutations and to distinguish them from homoplasmic sequence variations before further testing (e.g., sequencing) is performed. We evaluated the potential utility of temporal temperature gradient gel electrophoresis (TTGE) for these purposes in patients ...