Mitochondrial Diseases
Survey of human mitochondrial diseases using new genomic/proteomic tools
... Distinct mitochondrial pathologies may overlap more than one class, for example Leigh syndrome (see ...includes diseases arising from mutations in mtDNA genes encoding subunits of proteins involved in ...
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Sharpening the cutting edge: additional considerations for the UK debates on embryonic interventions for mitochondrial diseases
... In October 2015 the UK enacted legislation to permit the clinical use of two cutting edge germline-altering, IVF-based embryonic techniques: pronuclear transfer and maternal spindle transfer (PNT and MST). The aim is to ...
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Proton MR Spectroscopy of Mitochondrial Diseases: Analysis of Brain Metabolic Abnormalities and Their Possible Diagnostic Relevance
... The CNS is frequently involved in mitochondrial diseases because of its strong dependence on oxida- tive metabolism. The clinical consequences of this involvement are extremely heterogeneous, and in only a ...
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Mitochondrial diseases caused by mtDNA mutations: a mini-review
... In addition, there aroused interest in the technology of using donor mitochondria in the process of fertilization for prevention of maternally inherited mitochondrial disorders. The recent research had shown that ...
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Mitochondrial diseases: advances and issues
... Abstract: Mitochondrial diseases (MDs) are a clinically heterogeneous group of disorders caused by a dysfunction of the mitochondrial respiratory ...of mitochondrial medicine, also opening the ...
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Mitochondrial diseases in North America
... and mitochondrial DNA (mtDNA). Mitochondrial diseases (MtDs) can arise due to pathogenic variants in either of the 2 ...rare diseases, but among rare disorders, they are relatively fre- quent, ...
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Molecular mechanisms in mitochondrial diseases
... many mitochondrial diseases that the mtDNA genotype, and the proportion of mutant mtDNA present influences respiratory ...the mitochondrial depletion syndromes (Moraes et a i ...
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Peripheral Benzodiazepine Binding Sites in Platelets of Patients Affected by Mitochondrial Diseases and Large Scale Mitochondrial DNA Rearrangements
... outer mitochondrial mem- brane, as a constituent of mitochondrial permeability tran- sition ...the mitochondrial respiratory chain and apop- tosis have been suggested; in addition alterations of PBR ...
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A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases
... 5. Kalko SG, Paco S, Jou C, et al. Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and dif- ferentiation factor-15 as a potential novel ...
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Long-term Outcome and Clinical Spectrum of 73 Pediatric Patients With Mitochondrial Diseases
... (32%), mitochondrial (encephalo)myopathy (19%), intermittent neurologic (5%), visceral (11%), and Leber hereditary optic neuropathy ...A mitochondrial DNA mutation was found in 20% of ...
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Complete Repopulation of Mouse Mitochondrial DNA-less Cells With Rat Mitochondrial DNA Restores Mitochondrial Translation but Not Mitochondrial Respiratory Function
... the mitochondrial tRNA genes and resulting in the pathogenesis of mitochondrial diseases with large-scale deletions including several mitochon- that show various clinical ...with mitochondrial ...
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Ophthalmoplegia in Mitochondrial Disease
... Mitochondrial diseases are rare, such that there are limited data about the ...Because mitochondrial disease is heterogenous, it needs better classification and further studies to generalize its ho- ...
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Mitochondrial disorders and the eye
... of mitochondrial disease, and evidence points toward a pathogenic involvement in dis- eases of the eye, as discussed ...benefit mitochondrial diseases, with most promise in the use of coenzyme Q 10 ...
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The ethics of mitochondrial replacement
... Mitochondrial diseases are among the most common neuromuscular diseases and serious mitochondrial diseases may cause suffering and premature ...that mitochondrial diseases ...
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High mitochondrial densities in the hearts of Antarctic icefishes are maintained by an increase in mitochondrial size rather than mitochondrial biogenesis
... of mitochondrial biogenesis’, may not control this process (Kelly and Scarpulla, 2004; Scarpulla, ...most mitochondrial proteins, which are localized solely to the mitochondrion, mitochondrial ...
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Mitochondrial DNA Heteroplasmy in Candida glabrata after Mitochondrial Transformation
... of mitochondrial biogenesis for screening ho- moplasmic cells. Mitochondrial biogenesis is a complex phys- iological process involving a series of genes (19, 25) that play significant roles in the ...
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When is a vesicle not just a vesicle: mitochondrial spheroids and mitochondrial autophagosomes
... The observations from western hybridizatons were con- firmed in EM images taken from LCC9 cells transfected with mitofusin-1 siRNA (Figure 3C). Quantification of EM micrographs indicates that mitofusin-1 inhibition had ...
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Mitochondrial DNA and anti-mitochondrial antibodies in serum of autistic children
... Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by difficulties in communication, cognitive and learning deficits, as well as stereotypic behaviors. For the majority of cases there are no ...
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Mitochondrial respiratory states and rates: Building blocks of mitochondrial physiology
... markers volume, protein, content, mtDNA, activity of marker enzymes, respiratory reference state is 1511.. guided by the scientific question under study.[r] ...
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Mitochondrial Respiration Is Associated with Alloxan Induced Mitochondrial Permeability Transition
... increased mitochondrial inner membrane permeability which is known as mitochondrial permeability transition (MPT) is triggered by add- ing succinate in the presence of the diabetogenic agent ...whether ...
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