COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

Conclusions We report here the first patient carrying pathogenic mutations of COA7, causative of isolated COX deficiency and progressive neurological impairment. We also show that COA7 is a soluble protein localized to the matrix, rather than in the intermembrane space as previously suggested.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Open access, Genetic screening / counselling, Molecular genetics, Neuromuscular disease, Peripheral nerve disease, Memory disorders (psychiatry) Mitochondrial genetics Source Type: research

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Authors: Schep LJ, Slaughter RJ, Glue P, Gee P Abstract Cannabis is one of the most widely used recreational drugs in the world. Tetrahydrocannabinol (THC) is the psychoactive principal constituent of the cannabis plant (Cannabis sativa). It is taken either orally or by inhalation, resulting in sedation, euphoria, relaxation and loss of social inhibition. Adverse effects from higher doses can include fear, distrust and a profound state of unease, hallucinations, ataxia, stupor and seizures. Long-term use can result in respiratory and cardiovascular toxicity and has been associated with a range of psychiatric condit...
Source: New Zealand Medical Journal - Category: General Medicine Tags: N Z Med J Source Type: research
Conclusions. The nerve roots of CIDP, Charcot-Marie-Tooth disease type-1, and polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome were difficult to distinguish by MRN. Atypical CIDP patients had less nerve root injury compared with typical CIDP patients. MRN of either the brachial plexus or the lumbosacral plexus had a high diagnostic accuracy for CIDP, and it is not necessary to perform both parts of the examination. Level of Evidence: 2
Source: Spine - Category: Orthopaedics Tags: DIAGNOSTICS Source Type: research
Condition:   Chemotherapy-induced Peripheral Neuropathy Intervention:   Drug: Cannabidiol 100 MG/ML Sponsors:   Zealand University Hospital;   University of Copenhagen Not yet recruiting
Source: - Category: Research Source Type: clinical trials
Are there common regulators of aging to be found among transcription factors? Sweeping, complex, tissue-specific and species-specific changes in gene expression take place over the course of aging. If these are reactions to comparatively straightforward processes of molecular damage at the root of aging, processes that are similar between species, then it is possible that there also exist at least a few regulators that are also comparatively straightforward and similar between species. Where is the leap from simplicity to complexity? Is it that the immediate reaction to damage is complicated, with a hundred different senso...
Source: Fight Aging! - Category: Research Authors: Tags: Daily News Source Type: blogs
Conclusions:* Our findings demonstrate that p16 plays a key role in hepatic lipid metabolism and may thus contribute to the development of metabolic diseases.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by array Mus musculus Source Type: research
Aminoacyl-tRNA synthetases (aaRSs) have long been viewed as mere housekeeping proteins and have therefore often been overlooked in drug discovery. However, recent findings have revealed that many aaRSs have noncanonical functions, and several of the aaRSs have been linked to autoimmune diseases, cancer, and neurological disorders. Deciphering these roles has been challenging because of a lack of tools to enable their study. To help solve this problem, we have generated recombinant high-affinity antibodies for a collection of thirteen cytoplasmic and one mitochondrial aaRSs. Selected domains of these proteins were produced ...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Editors ' Picks Source Type: research
The outbreak of Coronavirus disease 2019 (COVID-19) has been widely reported to cause symptoms such as fever, cough, sore throat, fatigue and shortness of breath. Neurological complications have not been widely reported without associated respiratory symptoms. These neurological manifestations have been found mostly in the elderly1. There has been no report of ataxia or COVID-19 cerebellitis in the young adult population without associated respiratory symptoms.
Source: The Journal of Emergency Medicine - Category: Emergency Medicine Authors: Tags: Selected Topics: Neurological Emergencies Source Type: research
AbstractMaple syrup urine disease (MSUD) is characterized by a deficiency in the mitochondrial branched-chain α-keto acid dehydrogenase complex activity and, consequently, accumulation of the branched-chain amino acids and their respective branched-chain α-keto acids in fluids and the tissue. MSUD clinical symptoms include neurological alterations. KIC is considered one of the significant neurotoxic metab olites since its increased plasma concentrations are associated with neurological symptoms. We evaluated the effect of KIC intracerebroventricular (ICV) injection in hippocampal mitochondria function in rats. ...
Source: Metabolic Brain Disease - Category: Neurology Source Type: research
ConclusionGanglioside monosialic acid potentially decreases severe utidelone plus capecitabine-induced peripheral neuropathy in metastatic breast cancer, and further investigation is needed to validate the manageable efficacy of GM1 in CIPN.Clinical Trial, identifier NCT02253459.
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Metabolic reprogramming is associated with re/activation and antagonism of androgen receptor (AR) signaling that drives prostate cancer (PCa) progression to castration resistance, respectively. In particular, AR signaling influences the fates of citrate that uniquely characterizes normal and malignant prostatic metabolism (i.e., mitochondrial export and extracellular secretion in normal prostate, mitochondrial retention and oxidation to support oxidative phenotype of primary PCa, and extra-mitochondrial interconversion into acetyl-CoA for fatty acid synthesis and epigenetics in the advanced PCa). The emergence of castratio...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
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