Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:1.9.3.1 (cytochrome oxidase)
 8,822 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Muscle histology is an essential component of the diagnostic work-up for mitochondrial cytopathies and is very important in both ruling in disease as well as ruling out the disease (i.e., alternate diagnoses). A muscle biopsy method must provide tissue for histology, electron microscopy, enzymes and DNA and this can be obtained with a suction-modified 5 mm needle. Proper embedding and processing is important for optimal diagnostic yield. The essential stains for mitochondrial histology remain the modified Gomori trichrome, cytochrome oxidase, succinate dehydrogenase, and NADH. Electron microscopy can be helpful in selected cases, however, the decision to perform this on all samples remains a contentious issue. Some cases of mitochondrial cytopathy may show no abnormalities on histology or electron microscopy (i.e., LHON), whereas, other conditions can mimic mitochondrial disease through secondary mitochondrial changes (i.e., inclusion body myositis). Athletes show evidence of increased mitochondrial numbers but do not normally develop ragged red fibers or paracrystalline inclusions. Aging is associated with an accumulation of mitochondrial abnormalities and is an important factor to consider in the interpretation of the sample. For example, biopsies in young children with mitochondrial disease may be normal at the histological level and otherwise healthy older adults can show mitochondrial changes such as ragged red and COX-negative fibers.
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PMID:Pathology of skeletal muscle in mitochondrial disorders. 1612 Apr 5

Next generation sequencing of mitochondrial DNA (mtDNA) facilitates studies into the metabolic characteristics of production animals and their relation to production traits. Sequence analysis of mtDNA from pure-bred swine with highly disparate production characteristics (Mangalica Blonde, Mangalica Swallow-bellied, Meishan, Turopolje, and Yorkshire) was initiated to evaluate the influence of mtDNA polymorphisms on mitochondrial function. Herein, we report the complete mtDNA sequences of five Sus scrofa breeds and evaluate their position within the phylogeny of domestic swine. Phenotypic traits of Yorkshire, Mangalica Blonde, and Swallow-belly swine are presented to demonstrate their metabolic characteristics. Our data support the division of European and Asian breeds noted previously and confirm European ancestry of Mangalica and Turopolje breeds. Furthermore, mtDNA differences between breeds suggest function-altering changes in proteins involved in oxidative phosphorylation such as ATP synthase 6 (MT-ATP6), cytochrome oxidase I (MT-CO1), cytochrome oxidase III (MT-CO3), and cytochrome b (MT-CYB), supporting the hypothesis that mtDNA polymorphisms contribute to differences in metabolic traits between swine breeds. Our sequence data form the basis for future research into the roles of mtDNA in determining production traits in domestic animals. Additionally, such studies should provide insight into how mtDNA haplotype influences the extreme adiposity observed in Mangalica breeds.
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PMID:Mitochondrial DNA sequence and phylogenetic evaluation of geographically disparate Sus scrofa breeds. 2515 51

Mitochondria produce adenosine triphosphate (ATP) for energy requirements via the mitochondrial oxidative phosphorylation (OXPHOS) system. One of the hallmarks of cancer is the energy shift toward glycolysis. Low OXPHOS activity and increased glycolysis are associated with aggressive types of cancer. Mitochondria have their own genome (mitochondrial DNA [mtDNA]) encoding for 13 essential subunits of the OXPHOS enzyme complexes. We studied mtDNA in childhood acute lymphoblastic leukemia (ALL) to detect potential pathogenic mutations in OXPHOS complexes. The whole mtDNA from blood and bone marrow samples at diagnosis and follow-up from 36 ALL patients were analyzed. Novel or previously described pathogenic mtDNA mutations were identified in 8 out of 36 patients. Six out of these 8 patients had died from ALL. Five out of 36 patients had an identified poor prognosis genetic marker, and 4 of these patients had mtDNA mutations. Missense or nonsense mtDNA mutations were detected in the genes encoding subunits of OXPHOS complexes, as follows: MT-ND1, MT-ND2, MT-ND4L and MT-ND6 of complex I; MT-CO3 of complex IV; and MT-ATP6 and MT-ATP8 of complex V. We discovered mtDNA mutations in childhood ALL supporting the hypothesis that non-neutral variants in mtDNA affecting the OXPHOS function may be related to leukemic clones.
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PMID:Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia. 2870 39