Mitochondrial diseases & metabolic myopathies

Mitochondrial DNA A3243G mutation is most common in Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). mtDNA heteroplasmy, i.e. mutant load may contribute to clinical disease severity yet not fully understood. We aimed to investigate the level of blood mtDNA A3243G mutant load in MELAS patients and its correlation with functional scale. Total 25 subject were recruited, who met MELAS clinical criteria, positive for mtDNA A3243G mutation and blood mtDNA mutant load analysis.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research

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Excitotoxicity induced by NMDA receptors (NMDARs) is thought to be intimately linked to high intracellular calcium load. Unexpectedly, NMDAR-mediated toxicity can be eliminated without affecting NMDAR-induced calcium signals. Instead, excitotoxicity requires physical coupling of NMDARs to TRPM4. This interaction is mediated by intracellular domains located in the near-membrane portions of the receptors. Structure-based computational drug screening using the interaction interface of TRPM4 in complex with NMDARs identified small molecules that spare NMDAR-induced calcium signaling but disrupt the NMDAR/TRPM4 complex. These i...
Source: ScienceNOW - Category: Science Authors: Tags: Neuroscience, Online Only r-articles Source Type: news
Abstract Acute ischemia stroke (AIS) is one of the leading causes of mortality and disability worldwide, and its neurological impacts are devastating and permanent. There is no efficient and real treatment for acute ischemia stroke so far. Therefore, development of efficient therapeutic strategies is under focus of investigations by basic and clinical scientists. Brain is one of the organs with high energy consumption and metabolism. Hence, its functionality is highly dependent on mitochondrial activity and integrity. Therefore, mitochondria play a vital homeostatic role in neurons physiology and mitochondrial dys...
Source: Brain Research Bulletin - Category: Neurology Authors: Tags: Brain Res Bull Source Type: research
In conclusion, it remains unclear if brain-specific regional and temporal changes occur in the expression of the different APP variants during AD progression. Since APP is also found in blood cells, assessing the changes in APP mRNA expression in peripheral blood cells from AD patients has been considering an alternative. However, again the quantification of APP mRNA in peripheral blood cells has generated controversial results. Brain APP protein has been analyzed in only a few studies, probably as it is difficult to interpret the complex pattern of APP variants and fragments. We previously characterized the soluabl...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Mitochondrial disorders may present from birth to adulthood and are characterized by dysfunction of the mitochondrial respiratory chain due to pathogenic variants in mitochondrial DNA (mtDNA) or nuclear DNA, with an estimated incidence of 1/5000 1. Mitochondrial disorders have a broad phenotypic spectrum and may fall into one of several classic phenotypic presentations (e.g., mitochondrial encephalopathy with lactic acidosis and stroke-like episodes: MELAS; Leber hereditary optic neuropathy: LHON; myoclonic epilepsy with ragged red fibers: MERRF, Kearns-Sayre syndrome: KSS, among others) or may present with variable sympto...
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Editorials Source Type: research
In conclusion, using a large cohort with rich health and DNA methylation data, we provide the first comparison of six major epigenetic measures of biological ageing with respect to their associations with leading causes of mortality and disease burden. DNAm GrimAge outperformed the other measures in its associations with disease data and associated clinical traits. This may suggest that predicting mortality, rather than age or homeostatic characteristics, may be more informative for common disease prediction. Thus, proteomic-based methods (as utilised by DNAm GrimAge) using large, physiologically diverse protein sets for p...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Mitochondrial DNA m.3243A>G mutation rarely causes CADASIL-like phenotype. Neurobiol Aging. 2020 Aug 27;: Authors: Liao NY, Liao KK, Liao YC, Lee YC Abstract Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are 2 monogenic cerebral small vessel diseases sharing several common clinical features including young stroke, migraine, and cognitive dysfunction. The aim of this study was to understand the role of MELAS in patients with CADASIL-like manifestations. We scr...
Source: Neurobiology of Aging - Category: Geriatrics Authors: Tags: Neurobiol Aging Source Type: research
In this study, we investigated a panel of blood biomarkers in a cohort of 123 mitochondrial patients, with prominent neurological and muscular manifestations. These biomarkers included creatine, fibroblast growth factor 21 (FGF21) and growth/differentiation factor 15 (GDF-15), and the novel cell free circulating-mtDNA (ccf-mtDNA). All biomarkers were significantly increased in the patient group. After stratification by the specific phenotypes, ccf-mtDNA  was significantly increased in the Mitochondrial Encephalomyopathy Lactic Acidosis Stroke-like episodes syndrome (MELAS) group, and FGF21 and GDF-15 were significantl...
Source: Journal of Molecular Medicine - Category: Molecular Biology Source Type: research
We report that electrical stimulation (ES) stimulation of post-stroke aged rats led to an improved functional recovery of spatial long-term memory (T-maze), but not on the rotating pole or the inclined plane, both tests requiring complex sensorimotor skills. Surprisingly, ES had a detrimental effect on the asymmetric sensorimotor deficit. Histologically, there was a robust increase in the number of doublecortin-positive cells in the dentate gyrus and SVZ of the infarcted hemisphere and the presence of a considerable number of neurons expressing tubulin beta III in the infarcted area. Among the genes that were unique...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
ABSTRACT First Person is a series of interviews with the first authors of a selection of papers published in Disease Models &Mechanisms, helping early-career researchers promote themselves alongside their papers. Mohd. Salman is first author on ‘Nrf2/HO-1 mediates the neuroprotective effects of pramipexole by attenuating oxidative damage and mitochondrial perturbation after traumatic brain injury in rats’, published in DMM. Mohd. is a PhD student in the lab of Prof. Suhel Parvez at Jamia Hamdard, New Delhi, India, investigating the cellular and molecular mechanisms involved in traumatic brain injury, ischem...
Source: DMM Disease Models and Mechanisms - Category: Biomedical Science Tags: FIRST PERSON Source Type: research
Condition:   Huntington Disease Intervention:   Diagnostic Test: lumbar puncture Sponsors:   University Hospitals Cleveland Medical Center;   Case Western Reserve University;   National Institute of Neurological Disorders and Stroke (NINDS);   The Cleveland Clinic Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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