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Metabolic Myopathies

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Statins interfere with the attachment of S. cerevisiae mtDNA to the inner mitochondrial membrane.

Angela Cirigliano, Antonia Amelina, Beatrice Biferali, Alberto Macone, Chiara Mozzetta, Michele Maria Bianchi, Mattia Mori, Bruno Botta, Elah Pick, Rodolfo Negri, Teresa Rinaldi,

The 3-hydroxy-3-methylglutaryl-CoA reductase, a key enzyme of the mevalonate pathway for the synthesis of cholesterol in mammals (ergosterol in fungi), is inhibited by statins, a class of cholesterol lowering drugs. Indeed, statins are in a wide medical use, yet statins treatment could induce side effects as hepatotoxicity and myopathy in ... Read more >>

J Enzyme Inhib Med Chem (Journal of enzyme inhibition and medicinal chemistry)
[2020, 35(1):129-137]

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A Pharmacogenomic Dissection of a Rosuvastatin-Induced Rhabdomyolysis Case Evokes the Polygenic Nature of Adverse Drug Reactions.

Carlos Alberto Calderon-Ospina, Mario Hernández-Sómerson, Ana María García, Adriana Mejia, Caroll Tamayo-Agudelo, Paul Laissue, Dora Janeth Fonseca Mendoza,

Rosuvastatin, is a widely-used statin for the treatment of hypercholesterolemia and the prevention of cardiovascular diseases. Although rosuvastatin is well tolerated, about 3/10.000 patients can suffer severe myopathy. Rhabdomyolysis is a severe medical condition that causes injury to the skeletal muscle, electrolyte imbalances, acute renal failure and extreme creatine kinase ... Read more >>

Pharmgenomics Pers Med (Pharmacogenomics and personalized medicine)
[2020, 13:59-70]

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RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, autoinflammation, recurrent infections, skeletal and cardiac myopathy - four additional patients and a review of the current literature.

Rahul Phadke, Carola Hedberg-Oldfors, Renata S Scalco, David M Lowe, Michael Ashworth, Marco Novelli, Roshni Vara, Aine Merwick, Halima Amer, Reecha Sofat, Max Sugarman, Ana Jovanovic, Mark Roberts, Vasiliki Nakou, Andrew King, Istvan Bodi, Heinz Jungbluth, Anders Oldfors, Elaine Murphy,

In this paper we report four new patients, from 3 kindreds, with pathogenic variants in RBCK1 and a multisystem disorder characterized by widespread polyglucosan storage. We describe the clinical presentation of progressive skeletal and cardiac myopathy, combined immunodeficiencies and auto-inflammation, illustrate in detail the histopathological findings in multiple tissue types, ... Read more >>

J. Inherit. Metab. Dis. (Journal of Inherited Metabolic Disease)
[2020, :]

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Resveratrol for protection against statin toxicity in C2C12 and H9c2 cells.

Chama Attalah Nee Rezkallah, Angkana Thongkum, Chao Zhu, Qin M Chen,

Statins are among the most commonly prescribed drugs for the treatment of high blood cholesterol. Myotoxicity of statins in certain individuals is often a severe side effect leading to withdrawal. Using C2C12 and H9c2 cells, both exhibiting characteristics of skeletal muscle cells, we addressed whether resveratrol (RSV) can prevent statin ... Read more >>

J. Biochem. Mol. Toxicol. (Journal of biochemical and molecular toxicology)
[2020, :e22484]

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De Novo Phosphoinositide Synthesis in Zebrafish Is Required for Triad Formation but Not Essential for Myogenesis

Lindsay Smith, Lacramioara Fabian, Almundher Al-Maawali, Ramil Noche, James Dowling,

Abstract Phosphoinositides (PIPs) and their regulatory enzymes are key players in many cellular processes and are required for aspects of vertebrate development. Dysregulated PIP metabolism has been implicated in several human diseases, including a subset of skeletal myopathies that feature structural defects in the triad. The role of PIPs in ... Read more >>

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Vitamin D serum level in subjects with critical illness polyneuropathy and myopathy.

Domenico Intiso, Andrea Fontana, Massimiliano Copetti, Luigi Amoruso, Michelangelo Bartolo, Andrea Santamato, Filomena Di Rienzo,

BACKGROUND:Critical illness polyneuropathy and myopathy (CIPNM) is a disabling neuropathy that occurs in intensive care unit (ICU) subjects. It was hypothesized that a low serum level or deficiency of 25(OH)D might be associated with CIPNM. The aim of the present study was to ascertain the 25(OH)D serum level in subjects ... Read more >>

J Musculoskelet Neuronal Interact (Journal of musculoskeletal & neuronal interactions)
[2020, 20(1):18-26]

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Heteroplasmy and Copy Number in the Common m.3243A>G Mutation-A Post-Mortem Genotype-Phenotype Analysis.

Leila Motlagh Scholle, Stephan Zierz, Christian Mawrin, Claudia Wickenhauser, Diana Lehmann Urban,

Different mitochondrial DNA (mtDNA) mutations have been identified to cause mitochondrial encephalopathy, lactate acidosis and stroke-like episodes (MELAS). The underlying genetic cause leading to an enormous clinical heterogeneity associated with m.3243A>G-related mitochondrial diseases is still poorly understood. Genotype-phenotype correlation (heteroplasmy levels and clinical symptoms) was analysed in 16 patients (15 ... Read more >>

Genes (Basel) (Genes)
[2020, 11(2):]

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Mitochondrial Structure and Function in the Metabolic Myopathy Accompanying Patients with Critical Limb Ischemia.

Thomas Groennebaek, Tine Borum Billeskov, Camilla Tvede Schytz, Nichlas Riise Jespersen, Hans Erik Bøtker, Rikke Kathrine Jentoft Olsen, Nikolaj Eldrup, Joachim Nielsen, Jean Farup, Frank Vincenzo De Paoli, Kristian Vissing,

Mitochondrial dysfunction has been implicated as a central mechanism in the metabolic myopathy accompanying critical limb ischemia (CLI). However, whether mitochondrial dysfunction is directly related to lower extremity ischemia and the structural and molecular mechanisms underpinning mitochondrial dysfunction in CLI patients is not understood. Here, we aimed to study whether ... Read more >>

Cells (Cells)
[2020, 9(3):]

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Editorial: Pathophysiologic Insights From Biomarker Studies in Neurological Disorders.

Stefan Bittner, Marcello Moccia, Tobias Warnecke, Tobias Ruck,

Front Neurol (Frontiers in Neurology)
[2020, 11:151]

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Induction of the nicotinamide riboside kinase NAD+ salvage pathway in a model of sarcoplasmic reticulum dysfunction.

Craig L Doig, Agnieszka E Zielinska, Rachel S Fletcher, Lucy A Oakey, Yasir S Elhassan, Antje Garten, David Cartwright, Silke Heising, Ahmed Alsheri, David G Watson, Cornelia Prehn, Jerzy Adamski, Daniel A Tennant, Gareth G Lavery,

BACKGROUND:Hexose-6-Phosphate Dehydrogenase (H6PD) is a generator of NADPH in the Endoplasmic/Sarcoplasmic Reticulum (ER/SR). Interaction of H6PD with 11β-hydroxysteroid dehydrogenase type 1 provides NADPH to support oxo-reduction of inactive to active glucocorticoids, but the wider understanding of H6PD in ER/SR NAD(P)(H) homeostasis is incomplete. Lack of H6PD results in a deteriorating ... Read more >>

Skelet Muscle (Skeletal muscle)
[2020, 10(1):5]

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Waddling Gait: A complication of valproate therapy and a thought beyond vitamin D deficiency.

Amit Sharma, Siddhartha Sinha, Amit Narang, Dushyant K Chouhan, Sumit Gupta,

Proximal muscle weakness is a common presentation in paediatric-orthopaedic clinics and is frequently paired with a vitamin D deficiency diagnosis. Recently, side effects of the extensive use of antiepileptic and antipsychotic drugs such as sodium valproate in childhood disorders are being documented. Sodium valproate causes a time-dependent, drug-induced proximal myopathy. ... Read more >>

Sultan Qaboos Univ Med J (Sultan Qaboos University medical journal)
[2020, 20(1):e104-e108]

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β2 -adrenoceptor activation improves skeletal muscle autophagy in neurogenic myopathy.

Juliane C Campos, Leslie M Baehr, Nikolas D Ferreira, Luiz H M Bozi, Allen M Andres, Márcio A C Ribeiro, Roberta A Gottlieb, Sue C Bodine, Julio C B Ferreira,

β2 -adrenoceptor agonists improve autophagy and re-establish proteostasis in cardiac cells; therefore, suggesting autophagy as a downstream effector of β2 -adrenoceptor signaling pathway. Here, we used the pharmacological and genetic tools to determine the autophagy effect of sustained β2 -adrenoceptor activation in rodents with neurogenic myopathy, which display impaired skeletal ... Read more >>

FASEB J. (FASEB journal : official publication of the Federation of American Societies for Experimental Biology)
[2020, :]

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Muscular involvement of extranodal natural killer/T cell lymphoma misdiagnosed as polymyositis: A case report and review of literature.

Li-Hui Liu, Qing Huang, Yun-Hai Liu, Jie Yang, Han Fu, Lin Jin,

BACKGROUND:Natural killer (NK)/T cell lymphoma is a rare and highly aggressive malignant tumor, and is a special form of non-Hodgkin's lymphoma. Although extranodal involvement is frequently found in tissues such as the skin, testicular and gastrointestinal tract etc, its presence in skeletal muscle has scarcely been reported in the literature. ... Read more >>

World J Clin Cases (World journal of clinical cases)
[2020, 8(5):963-970]

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Atherosclerosis Can Be Mitochondrial: A Review.

Josef Finsterer,

One of the systems that are potentially affected in mitochondrial disorders, but hardly get systematically investigated, are the arteries. One of the phenotypic manifestations in arteries is atherosclerosis. This review focuses on the current knowledge and recent advances of mitochondrial atherosclerosis. We conducted a systematic literature review via PubMed using ... Read more >>

Cureus (Cureus)
[2020, 12(2):e6987]

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Gyriform restricted diffusion in adults: looking beyond thrombo-occlusions.

Vivek Pai, Yih Yian Sitoh, Bela Purohit,

Gyriform restricted diffusion (GRD) refers to hyperintense signal involving the cerebral cortex on diffusion-weighted images (DWI) with corresponding hypointensity on apparent diffusion coefficient (ADC) images. These changes are commonly seen following a vascular occlusion, reflecting the limitation of water molecule movement across cell membranes (restricted diffusion) due to the failure ... Read more >>

Insights Imaging (Insights into imaging)
[2020, 11(1):20]

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Granulomatous Myositis Associated with Extremely Elevated Anti-striated Muscle Antibodies in the Absence of Myasthenia Gravis.

Sreenath Meegada, Hamza Akbar, Suman Siddamreddy, David Casement, Rajanshu Verma,

Granulomatous myositis is a rare disease that predominantly results in proximal muscle weakness in the upper and/or lower extremities. As it can resemble other inflammatory myopathies, it is important to obtain a muscle biopsy to make the underlying diagnosis. We report the first case of granulomatous myositis associated with extremely ... Read more >>

Cureus (Cureus)
[2020, 12(2):e6981]

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An Unusual Case of Critical Illness Polyneuromyopathy.

Madhulika Mahashabde, Gaurav Chaudhary, Gangadharam Kanchi, Shalesh Rohatgi, Prajwal Rao, Rahul Patil, Varun Nallamothu,

Critical illness myopathy (CIM), critical illness polyneuropathy (CIP), and critical illness polyneuromyopathy (CIPNM) are the group of disorders that are commonly presented as neuromuscular weakness in intensive care unit (ICU) settings. They are responsible for prolonged ICU stay and failure to wean off from mechanical ventilation. We report a case ... Read more >>

Indian J Crit Care Med (Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine)
[2020, 24(2):133-135]

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Aldehyde dehydrogenases contribute to skeletal muscle homeostasis in healthy, aging, and Duchenne muscular dystrophy patients.

Jessy Etienne, Pierre Joanne, Cyril Catelain, Stéphanie Riveron, Alexandra Clarissa Bayer, Jérémy Lafable, Isabel Punzon, Stéphane Blot, Onnik Agbulut, Jean-Thomas Vilquin,

BACKGROUND:Aldehyde dehydrogenases (ALDHs) are key players in cell survival, protection, and differentiation via the metabolism and detoxification of aldehydes. ALDH activity is also a marker of stem cells. The skeletal muscle contains populations of ALDH-positive cells amenable to use in cell therapy, whose distribution, persistence in aging, and modifications in ... Read more >>

J Cachexia Sarcopenia Muscle (Journal of cachexia, sarcopenia and muscle)
[2020, :]

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Metabolic effects of bezafibrate in mitochondrial disease.

Hannah Steele, Aurora Gomez-Duran, Angela Pyle, Sila Hopton, Jane Newman, Renae J Stefanetti, Sarah J Charman, Jehill D Parikh, Langping He, Carlo Viscomi, Djordje G Jakovljevic, Kieren G Hollingsworth, Alan J Robinson, Robert W Taylor, Leonardo Bottolo, Rita Horvath, Patrick F Chinnery,

Mitochondrial disorders affect 1/5,000 and have no cure. Inducing mitochondrial biogenesis with bezafibrate improves mitochondrial function in animal models, but there are no comparable human studies. We performed an open-label observational experimental medicine study of six patients with mitochondrial myopathy caused by the m.3243A>G MTTL1 mutation. Our primary aim was ... Read more >>

EMBO Mol Med (EMBO molecular medicine)
[2020, 12(3):e11589]

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Mitochondrial division, fusion and degradation.

Daisuke Murata, Kenta Arai, Miho Iijima, Hiromi Sesaki,

The mitochondrion is an essential organelle for a wide range of cellular processes, including energy production, metabolism, signal transduction and cell death. To execute these functions, mitochondria regulate their size, number, morphology and distribution in cells via mitochondrial division and fusion. In addition, mitochondrial division and fusion control the autophagic ... Read more >>

J. Biochem. (Journal of biochemistry)
[2020, 167(3):233-241]

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Improved Dried Blood Spot-Based Metabolomics: A Targeted, Broad-Spectrum, Single-Injection Method.

Kefeng Li, Jane C Naviaux, Jonathan M Monk, Lin Wang, Robert K Naviaux,

Dried blood spots (DBS) have proven to be a powerful sampling and storage method for newborn screening and many other applications. However, DBS methods have not yet been optimized for broad-spectrum targeted metabolomic analysis. In this study, we developed a robust, DBS-based, broad-spectrum, targeted metabolomic method that was able to ... Read more >>

Metabolites (Metabolites)
[2020, 10(3):]

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Physiochemical properties, protein and metabolite profiles of muscle exudate of chicken meat affected by wooden breast myopathy.

Tong Xing, Xue Zhao, Xinglian Xu, Jiaolong Li, Lin Zhang, Feng Gao,

The current study was designed to investigate the physiochemical properties, protein and metabolite profiles of muscle exudate obtained from chicken breast fillets affected by wooden breast (WB) myopathy. Twenty-four fillets were categorized into varying degrees of WB condition including normal, moderate and severe. Results indicated that exudate loss, free hemoglobin ... Read more >>

Food Chem (Food chemistry)
[2020, 316:126271]

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Alterations in activin A-myostatin-follistatin system associate with disease activity in inflammatory myopathies.

Lucia Vernerová, Veronika Horváthová, Tereza Kropáčková, Martina Vokurková, Martin Klein, Michal Tomčík, Sabína Oreská, Maja Špiritović, Hana Štorkánová, Barbora Heřmánková, Kateřina Kubínová, Olga Kryštůfková, Heřman Mann, Jozef Ukropec, Barbara Ukropcová, Jiří Vencovský,

OBJECTIVES:The aim of this study was to investigate the systemic and skeletal muscle levels of atrophy-associated myokines in patients with idiopathic inflammatory myopathies (IIM) and their association with clinical characteristics of myositis. METHODS:A total of 94 IIM patients and 162 healthy controls were recruited. Of those, 20 IIM patients and ... Read more >>

Rheumatology (Oxford) (Rheumatology (Oxford, England))
[2020, :]

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Pitfalls in the diagnosis of myositis.

Hector Chinoy, James B Lilleker,

The idiopathic inflammatory myopathies are a group of heterogeneous autoimmune connective tissue diseases. Despite increase in the understanding of these conditions, securing a timely diagnosis and accurate subtype classification remains difficult in some cases. This has important implications for patients, where delayed or inappropriate treatments can have a negative effect ... Read more >>

Best Pract Res Clin Rheumatol (Best practice & research. Clinical rheumatology)
[2020, :101486]

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PPARβ/δ Agonism Upregulates Forkhead Box A2 to Reduce Inflammation in C2C12 Myoblasts and in Skeletal Muscle.

Wendy Wen Ting Phua, Wei Ren Tan, Yun Sheng Yip, Ivan Dongzheng Hew, Jonathan Wei Kiat Wee, Hong Sheng Cheng, Melvin Khee Shing Leow, Walter Wahli, Nguan Soon Tan,

Daily activities expose muscles to innumerable impacts, causing accumulated tissue damage and inflammation that impairs muscle recovery and function, yet the mechanism modulating the inflammatory response in muscles remains unclear. Our study suggests that Forkhead box A2 (FoxA2), a pioneer transcription factor, has a predominant role in the inflammatory response ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(5):]

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