The human mitochondrial genome involves over 1,000 genes, dispersed across the maternally inherited mitochondrial DNA (mtDNA) and the biparentally inherited nuclear DNA (nDNA). The mtDNA encodes 13 core proteins that determine the efficiency of the mitochondrial energy-generating system, oxidative phosphorylation (OXPHOS), plus the RNA genes for their translation within the mitochondrion. The m...

abstract bachground and aim: mutation analysis of mitochondrial genome and brca genes are helpful in the early diagnosis of familial breast cancers. in this study, we investigated mitochondrial common deletion and brca mutations through multiplex pcr and clinical parameters for the detection of familial breast cancers in archival breast cancer samples. methods: the multiplex pcr was conducted o...

The assembly and function of mitochondria require coordinated expression from two distinct genomes, the mitochondrial DNA (mtDNA) and nuclear DNA (nDNA). Mutations in either genome can be a source of phenotypic variation, yet their coexpression has been largely overlooked as a source of variation, particularly in the emerging paradigm of mitochondrial replacement therapy. Here we tested how the...

Two major inconsistencies exist in the current neo-Darwinian evolutionary theory that random chromosomal mutations acted on by natural selection generate new species. First, natural selection does not require the evolution of ever increasing complexity, yet this is the hallmark of biology. Second, human chromosomal DNA sequence variation is predominantly either neutral or deleterious and is ins...

Mitochondria are membrane-enclosed organelle found in most eukaryotic cells, which known as power house in cells. This organelle transforms energy into forms that are usable by the cell. The most common psychiatric disorders such as depression and anxiety can be linked to mitochondrial disorders. Furthermore, mutations of mitochondrial or nuclear DNA (mtDNA and nDNA, respectively) have been lin...

Quantitative real-time PCR has become a popular method to analyze and quantify changes in the copy number of mitochondrial DNA (mtDNA), and nuclear DNA (nDNA) is often used as an endogenous reference for mtDNA abundance. In our experience, using nDNA as a reference is problematic, due to differences in the extraction efficiency of nDNA and mtDNA and variation in the ploidy of experimental sampl...

Mitochondrial diseases are the most common inherited inborn error of metabolism resulting in deficient ATP generation, due to failure homeostasis and proper bioenergetics. The frequent mitochondrial disease manifestation children is Leigh syndrome (LS), encompassing clinical, neuroradiological, biochemical, molecular features. It typically affects infants but occurs anytime life. Considering re...

mitochondria are membrane-enclosed organelle found in most eukaryotic cells, which known as power house in cells. this organelle transforms energy into forms that are usable by the cell. the most common psychiatric disorders such as depression and anxiety can be linked to mitochondrial disorders. furthermore, mutations of mitochondrial or nuclear dna (mtdna and ndna, respectively) have been lin...

BACKGROUND Mitochondria contain their own DNA (MtDNA) that is very sensitive to oxidative stress and as a consequence could be damaged in quantity. Oxidative stress is largely recognized to play a key role in the pathogenesis of asthma and COPD and might have a role in the new intermediate phenotype ACOS (asthma-COPD overlap syndrome). The aim of this study was to investigate MtDNA alterations,...

Variation in the intracellular percentage of normal and mutant mitochondrial DNAs (mtDNA) (heteroplasmy) can be associated with phenotypic heterogeneity in mtDNA diseases. Individuals that inherit the common disease-causing mtDNA tRNA(Leu(UUR)) 3243A>G mutation and harbor ∼10-30% 3243G mutant mtDNAs manifest diabetes and occasionally autism; individuals with ∼50-90% mutant mtDNAs manifest encep...