3,045 research outputs found
Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)?
No full textNeuromyelitis optica (NMO) has similarities with Leber hereditary optic neuropathy (LHON, MIM 535 000) which is primarily due to mutations of mitochondrial DNA (mtDNA) that disrupt complex I of the respiratory chain. In this study, we found no evidence to support the hypothesis that ancient mtDNA polymorphisms are associated with or predispose to NMO. A study of this size cannot exclude a subtle increased susceptibility, especially if conferred by rare mtDNA variants in a region not directly sequenced here. However, this would be very difficult to demonstrate, given the rarity of NMO and the samples sizes required to show a convincing association between mtDNA variants and a complex disease
Reflections of a Jewish, Lesbian Author
No full textIn this essay, Jewish lesbian author Leslea Newman speaks of the importance of finding one's own identity reflected in works of literature, citing examples of her own work, and recommending the writings of other Jewish lesbian authors of merit
Substrate utilisation of cultured skeletal muscle cells in patients with CFS
No full text\ua9 2020, The Author(s).Chronic fatigue syndrome (CFS) patients often suffer from severe muscle pain and an inability to exercise due to muscle fatigue. It has previously been shown that CFS skeletal muscle cells have lower levels of ATP and have AMP-activated protein kinase dysfunction. This study outlines experiments looking at the utilisation of different substrates by skeletal muscle cells from CFS patients (n = 9) and healthy controls (n = 11) using extracellular flux analysis. Results show that CFS skeletal muscle cells are unable to utilise glucose to the same extent as healthy control cells. CFS skeletal muscle cells were shown to oxidise galactose and fatty acids normally, indicating that the bioenergetic dysfunction lies upstream of the TCA cycle. The dysfunction in glucose oxidation is similar to what has previously been shown in blood cells from CFS patients. The consistency of cellular bioenergetic dysfunction in different cell types supports the hypothesis that CFS is a systemic disease. The retention of bioenergetic defects in cultured cells indicates that there is a genetic or epigenetic component to the disease. This is the first study to use cells derived from skeletal muscle biopsies in CFS patients and healthy controls to look at cellular bioenergetic function in whole cells
Mitochondrial DNA as a Risk Factor for False Positives in Case-Control Association Studies
No full textMitochondrial DNA clonality in the dock: can surveillance swing the case?
No full textMitochondrial DNA (mtDNA) is a favoured tool of evolutionary biologists because its high mutation rate generates enough signal to make inferences about population history over short time frames. Furthermore, mtDNA inheritance is clonal, being transmitted only through the maternal line. This enables evolutionary histories to be assembled without the complexities introduced by biparental recombination. Recently, a single case of human biparental inheritance has been reported. Given this, and the role supposed clonal inheritance has had in shaping our knowledge of human population history, it is essential to establish a method for identifying any recombinant mtDNA molecules in our population. A reliable surveillance mechanism would either maintain our confidence in clonal inheritance or indicate the inaccuracy of our inferences. \ua9 2006 Elsevier Ltd. All rights reserved
Raising Doubts about the Pathogenicity of Mitochondrial DNA Mutation m.3308T>C in Left Ventricular Hypertraveculation/Noncompaction
No full textThe role of mitochondria in ME/CFS: a perspective
No full text\ua9 2019, \ua9 2019 IACFS/ME.Chronic fatigue syndrome (CFS) also known as Myalgic encephalomyelitis (ME) is a debilitating disease, characterized by the symptom of severe fatigue. ME/CFS is a heterogeneous condition in both clinical presentation and disease duration. A diagnosis of ME/CFS is based on the exclusion of other diseases due to a current lack of known biomarkers for the disease. Patients may be split into categories based on the severity of their illness–mild, moderate and severe. Here we consider some of the recent advances in the understanding of mitochondrial dysfunction and mitochondrial DNA (mtDNA) variation that may have relevance to ME/CFS. Thus far, we have shown that ME/CFS patients do not harbor proven mtDNA mutations, another exclusion, albeit an important one. As such this group of patients do not fall within the category of patients with mitochondrial disorder. If ME/CFS patients have some form of mitochondrial dysfunction, the form and cause of this dysfunction is a matter of debate. The current data underlines the need to move from small studies to larger endeavors applying multiple methods to well-defined cohorts with samples taken longitudinally
The effect of myalgic encephalomyelitis/ chronic fatigue syndrome (ME/CFS) severity on cellular bioenergetic function
No full textCopyright: \ua9 2020 Tomas et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.Myalgic encephalomyelitis/ Chronic fatigue syndrome (ME/CFS) has been associated with abnormalities in mitochondrial function. In this study we have analysed previous bioenergetics data in peripheral blood mononuclear cells (PBMCs) using new techniques in order to further elucidate differences between ME/CFS and healthy control cohorts. We stratified our ME/CFS cohort into two individual cohorts representing moderately and severely affected patients in order to determine if disease severity is associated with bioenergetic function in PBMCs. Both ME/CFS cohorts showed reduced mitochondrial function when compared to a healthy control cohort. This shows that disease severity does not correlate with mitochondrial function and even those with a moderate form of the disease show evidence of mitochondrial dysfunction. Equations devised by another research group have enabled us to calculate ATP-linked respiration rates and glycolytic parameters. Parameters of glycolytic function were calculated by taking into account respiratory acidification. This revealed severely affected ME/CFS patients to have higher rates of respiratory acidification and showed the importance of accounting for respiratory acidification when calculating parameters of glycolytic function. Analysis of previously published glycolysis data, after taking into account respiratory acidification, showed severely affected patients have reduced glycolysis compared to moderately affected patients and healthy controls. Rates of ATP-linked respiration were also calculated and shown to be lower in both ME/CFS cohorts. This study shows that severely affected patients have mitochondrial and glycolytic impairments, which sets them apart from moderately affected patients who only have mitochondrial impairment. This may explain why these patients present with a more severe phenotype
Staging the life-world: Habermas and the recuperation of Austin speech act theory
No full textPT: J; CR: APEL KO, 1976, SPRACHPRAGMATIK PHIL AUSTIN JL, 1962, HOW TO DO THINGS WOR AUSTIN JL, 1970, PHILOS PAPERS CULLER J, 1982, DECONSTRUCTION DERRIDA J, 1977, GLYPH, V1 ECO U, 1992, UNDERSTANDING ORIGIN, P273 FISH S, 1987, TRACING LIT THEORY HABERMAS J, 1984, THEORY COMMUNICATIVE, V1 HABERMAS J, 1987, THEORY COMMUNICATIVE, V2 HABERMAS J, 1989, JURGEN HABERMAS SOC MARTINET A, 1962, FUNCTIONAL VIEW LANG, P24 QUINE WV, 1960, WORD OBJECT SEARLE JR, 1969, SPEECH ACTS SEARLE JR, 1977, GLYPH, V1 VANEEMEREN F, 1983, SPEECH ACTS ARGUMENT WARNOCK GJ, 1989, FL AUSTIN; NR: 16; TC: 0; J9: J THEOR SOC BEHAV; PG: 12; GA: KR147Source type: Electronic(1
MODEIN2 and Colby: computer codes for sediment transport computations
No full textNovember, 1976.CER76-77VMP-JL-DBS19
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