The mitochondria are the power plants of the cell; when they are unable to meet the brain’s substantial energy demands, neurodegeneration occurs. Leigh syndrome (LS) and Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) are two such neurodegenerative diseases, and are caused by dysfunctional ATP synthase. This enzyme is composed of fifteen subunits that work together to couple the flow of pro...

Neste trabalho foi utilizado o algoritmo de geração proteínas, que realiza a construção códigos BCH, para reproduzir uma sequência DNA relacionada à enzima mitocondrial ATP6. Este permite estudo mutações na gerada, bem como sua identificação, através corretores erros. Na reprodução da ATP6 possível observar ocorre troca um nucleotídeo posição trinca 17, acarretando em mutação não silenciosa. As...

OBJECTIVE Due to the importance of energy metabolism in mitochondria, mitochondrial genome variations are evaluated in energy-related diseases such as obesity. To date, several nuclear genes were found to be related to obesity. Our aim in this study was to investigate the presence of polymorphisms in mitochondrial ATPase subunit 6 (mt-ATP6) and cytochrome b (mt-CytB) genes that may be associate...

Numerous mitochondrial DNA mutations cause mitochondrial encephalomyopathy: a collection of related diseases for which there exists no effective treatment. Mitochondrial encephalomyopathies are complex multisystem diseases that exhibit a relentless progression of severity, making them both difficult to treat and study. The pathogenic and compensatory metabolic changes that are associated with c...

Human mtDNA shows striking regional variation, traditionally attributed to genetic drift. However, it is not easy to account for the fact that only two mtDNA lineages (M and N) left Africa to colonize Eurasia and that lineages A, C, D, and G show a 5-fold enrichment from central Asia to Siberia. As an alternative to drift, natural selection might have enriched for certain mtDNA lineages as peop...

Cytoplasmic male sterility (CMS) and nucleus-controlled fertility restoration are widespread plant reproductive features that provide useful tools to exploit heterosis in crops. However, the molecular mechanism underlying this kind of cytoplasmic-nuclear interaction remains unclear. Here, we show in rice (Oryza sativa) with Boro II cytoplasm that an abnormal mitochondrial open reading frame, or...

Dysfunction of mitochondrial ATPase (F1F(o)-ATP synthase) due to missense mutations in ATP6 [mtDNA (mitochondrial DNA)-encoded subunit a] is a frequent cause of severe mitochondrial encephalomyopathies. We have investigated a rare mtDNA mutation, i.e. a 2 bp deletion of TA at positions 9205 and 9206 (9205DeltaTA), which affects the STOP codon of the ATP6 gene and the cleavage site between the R...

the possibility of occurrence of some rearrangements inside and or around coxii and atp6 genes and their relationship with male sterility in rice lines having wild abortive (wa)  cytoplasm was studied. two sterile (ir58025a and ir62829a) and two maintainer lines (ir58025b and ir62829b) were used. radioactive southern blotting was employed to carry out the experiments. the hybridization of coxii...

The possibility of occurrence of some rearrangements inside and or around coxII and atp6 genes and their relationship with male sterility in rice lines having wild abortive (WA)  cytoplasm was studied. Two sterile (IR58025A and IR62829A) and two maintainer lines (IR58025B and IR62829B) were used. Radioactive Southern blotting was employed to carry out the experiments. The hybridization of coxII...