Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:1.6.5.3 (complex I)
 8,901 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Atherosclerosis is a basis of development for many cardiovascular diseases, which are leading causes of death among people in the 21-st century. One of possible causes of atherosclerosis may be somatic mutations of human mitochondrial genome. In order to identify mutations associated with atherosclerosis, we analyzed 42 mitochondrial mutations found in various pathologies. The subject of the study were individuals who died as a result of an accident or a sudden death. The material for the investigation were segments of intima from 7 aortas both normal and with lipofibrous plaques. DNA was isolated by a method of phenol-chloroform extraction. PCR-fragments of DNA containing the region of investigated mutations were analyzed by an original method of quantitative assessment of mitochondrial genome mutant alleles. This method was developed in our laboratory on the basis of pyrosequencing technology. Statistical data processing was performed using IBM SPSS Statistics 21.0 and by bootstrap analysis. 40 of 42 studied mutations were heteroplasmic and two were homoplasmic according to the absence of a mutant allele in atherosclerosis. The developed method of direct quantitative assessment of mitochondrial genome mutant alleles helped us to find three new mutations: 652delG, 961delC and 5132insAA. It was found that 11 of mitochondrial mutations (652insG, T3336S, C3256T, G14459A, G14846A, G15059A, 652delC, A1555G, C5178A, G13513A and G12315A), belonging to eight mitochondrial genes: rRNA 12S, tRNA - Leu (codon recognition UUR) and tRNA - Leu (codon recognition CUN), subunit 1, 2, 5 and 6 of NADH dehydrogenase and cytochrome B are potentially associated with atherosclerosis, because from 29% (2 of 7 aortas) to 86% (6/7) investigated aortas have a significant difference in the heteroplasmy level of these mutations in lipofibrous plaques compared to normal aortic intima.
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PMID:[Association of mitochondrial genome mutations with lipofibrous plaques in human aortic intima]. 2622 85

Sporadic inclusion body myositis (sIBM) is one of the most common myopathies in elderly people. Mitochondrial abnormalities at the histological level are present in these patients. We hypothesize that mitochondrial dysfunction may play a role in disease aetiology. We took the following measurements of muscle and peripheral blood mononuclear cells (PBMCs) from 30 sIBM patients and 38 age- and gender-paired controls: mitochondrial DNA (mtDNA) deletions, amount of mtDNA and mtRNA, mitochondrial protein synthesis, mitochondrial respiratory chain (MRC) complex I and IV enzymatic activity, mitochondrial mass, oxidative stress and mitochondrial dynamics (mitofusin 2 and optic atrophy 1 levels). Depletion of mtDNA was present in muscle from sIBM patients and PBMCs showed deregulated expression of mitochondrial proteins in oxidative phosphorylation. MRC complex IV/citrate synthase activity was significantly decreased in both tissues and mitochondrial dynamics were affected in muscle. Depletion of mtDNA was significantly more severe in patients with mtDNA deletions, which also presented deregulation of mitochondrial fusion proteins. Imbalance in mitochondrial dynamics in muscle was associated with increased mitochondrial genetic disturbances (both depletion and deletions), demonstrating that proper mitochondrial turnover is essential for mitochondrial homoeostasis and muscle function in these patients.
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PMID:Mitochondrial DNA disturbances and deregulated expression of oxidative phosphorylation and mitochondrial fusion proteins in sporadic inclusion body myositis. 2741 19