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Metabolic myopathy

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https://www.readbyqxmd.com/read/29239106/er-stress-in-skeletal-muscle-remodeling-and-myopathies
#1
REVIEW
Dil Afroze, Ashok Kumar
Skeletal muscle is a highly plastic tissue in the human body that undergoes extensive adaptation in response to environmental cues, such as physical activity, metabolic perturbation, and disease conditions. The endoplasmic reticulum (ER) plays a pivotal role in protein folding and calcium homeostasis in many mammalian cell types including skeletal muscle. However, overload of misfolded or unfolded proteins in the ER lumen cause stress, which results in the activation of a signaling network called the unfolded protein response (UPR)...
December 14, 2017: FEBS Journal
https://www.readbyqxmd.com/read/29235020/do-gstm1-and-gstt1-polymorphisms-influence-the-risk-of-developing-mitochondrial-diseases-in-a-tunisian-population
#2
Raouia Ghorbel, Ghada Ben Salah, Rania Ghorbel, Afif Ben Mahmoud, Imen Chamkha, Emna Mkaouar-Rebai, Leila Ammar-Keskes, Faiza Fakhfakh
Mitochondria play an essential role to supply the cell with metabolic energy in the form of adenosine triphosphate (ATP) through oxidative phosphorylation (OXPHOS). As a consequence, they are also the primary source of cellular reactive oxygen species (ROS) which can cause oxidative damage of individual respiratory chain complexes. Indeed, affected OXPHOS subunits result in decreases in ATP production and increases in ROS formation which generate oxidative phosphorylation deficiency leading to mitochondrial dysfunctions...
December 12, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/29228356/dietary-intervention-rescues-myopathy-associated-with-neurofibromatosis-type-1
#3
Matthew A Summers, Thusitha Rupasinghe, Emily R Vasiljevski, Frances J Evesson, Kathy Mikulec, Lauren Peacock, Kate Gr Quinlan, Sandra T Cooper, Ute Roessner, David A Stevenson, David G Little, Aaron Schindeler
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with complex symptomology. In addition to a predisposition to tumors, children with NF1 can present with reduced muscle mass, global muscle weakness, and impaired motor skills, which can have a significant impact on quality of life. Genetic mouse models have shown a lipid storage disease phenotype may underlie muscle weakness in NF1. Herein we confirm that biopsy specimens from six individuals with NF1 similarly manifest features of a lipid storage myopathy, with marked accumulation of intramyocellular lipid, fibrosis, and mononuclear cell infiltrates...
December 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29224958/renal-involvement-in-neuropathy-ataxia-retinitis-pigmentosa-narp-syndrome-a-case-report
#4
Sandrine Lemoine, Marine Panaye, Maud Rabeyrin, Elisabeth Errazuriz-Cerda, Bénédicte Mousson de Camaret, Philippe Petiot, Laurent Juillard, Fitsum Guebre-Egziabher
We report a case of a patient who had the mitochondrial cytopathy complex of neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome diagnosed at age 11 years with a biopsy-proven kidney involvement that progressed to end-stage renal disease at age 21 years. Mutations of mitochondrial DNA (mtDNA) are maternally inherited and lead to mitochondrial cytopathies with predominant neurologic manifestations: psychomotor retardation, epilepsy, ataxia, neuropathy, and myopathy. Given the ubiquitous nature of mitochondria, cellular dysfunction can also appear in tissues with high metabolic turnover; thus, there can be cardiac, digestive, ophthalmologic, and kidney complications...
December 7, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29223996/metabolic-myopathies-a-practical-approach
#5
REVIEW
James B Lilleker, Yann Shern Keh, Federico Roncaroli, Reena Sharma, Mark Roberts
Metabolic myopathies are a diverse group of rare genetic disorders and their associated muscle symptoms may be subtle. Patients may present with indolent myopathic features, exercise intolerance or recurrent rhabdomyolysis. Diagnostic delays are common and clinicians need a high index of suspicion to recognise and differentiate metabolic myopathies from other conditions that present in a similar fashion. Standard laboratory tests may be normal or non-specific, particularly between symptomatic episodes. Targeted enzyme activity measurement and next-generation genetic sequencing are increasingly used...
December 9, 2017: Practical Neurology
https://www.readbyqxmd.com/read/29197093/the-association-between-irisin-and-muscle-metabolism-in-different-thyroid-disorders
#6
Ariadna Zybek-Kocik, Nadia Sawicka-Gutaj, Ewelina Szczepanek-Parulska, Mirosław Andrusiewicz, Joanna Waligórska-Stachura, Piotr Białas, Tomasz Krauze, Przemysław Guzik, Jerzy Skrobisz, Marek Ruchała
BACKGROUND: Irisin is a new adipo-myokine, encoded by the FNDC5 gene. Currently, there is a discussion regarding the relation between thyroid function and irisin concentration. This prospective study assesses the influence of thyrometabolic changes on serum irisin concentration in association with altered muscle metabolism. This is performed on a large cohort of patients affected by severe hypo- or hyperthyroidism, as well as by the expression of the FNDC5 gene in thyroid tissue affected by different pathologies...
December 2, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29190034/the-role-of-%C3%AE-b-crystallin-in-skeletal-and-cardiac-muscle-tissues
#7
REVIEW
Ivan Dimauro, Ambra Antonioni, Neri Mercatelli, Daniela Caporossi
All organisms and cells respond to various stress conditions such as environmental, metabolic, or pathophysiological stress by generally upregulating, among others, the expression and/or activation of a group of proteins called heat shock proteins (HSPs). Among the HSPs, special attention has been devoted to the mutations affecting the function of the αB-crystallin (HSPB5), a small heat shock protein (sHsp) playing a critical role in the modulation of several cellular processes related to survival and stress recovery, such as protein degradation, cytoskeletal stabilization, and apoptosis...
November 30, 2017: Cell Stress & Chaperones
https://www.readbyqxmd.com/read/29190010/are-mechanically-sensitive-regulators-involved-in-the-function-and-patho-physiology-of-cerebral-palsy-related-contractures
#8
Jessica Pingel, Frank Suhr
Skeletal muscle tissue is mechanosensitive, as it is able to sense mechanical impacts and to translate these into biochemical signals making the tissue adapt. Among its mechanosensitive nature, skeletal muscle tissue is the largest metabolic organ of the human body. Disturbances in skeletal muscle mechanosensing and metabolism cause and contribute to many diseases, i.e. muscular dystrophies/myopathies, cardiovascular diseases, COPD or diabetes mellitus type 2. A less commonly focused muscle-related disorder is clinically known as muscle contractures that derive from cerebral palsy (CP) conditions in young and adults...
November 30, 2017: Journal of Muscle Research and Cell Motility
https://www.readbyqxmd.com/read/29178965/a-child-with-distal-type-1-renal-tubular-acidosis-presenting-with-progressive-gross-motor-developmental-regression-and-acute-paralysis
#9
Randula Ranawaka, Kavinda Dayasiri, Manoji Gamage
BACKGROUND: Distal (Type 1) renal tubular acidosis (dRTA) is characterized by inability to secrete hydrogen irons from the distal tubule. The aetiology of dRTA is diverse and can be either inherited or acquired. Common clinical presentations of dRTA in the paediatric age group include polyuria, nocturia, failure to thrive, constipation, abnormal breathing and nephrolithiasis. Though persistent hypokalemia is frequently seen in dRTA, hypokalemic muscular paralysis is uncommon and rarely described in children...
November 25, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29153022/-rhabdomyolysis-may-it-be-a-metabolic-myopathy-case-report-and-diagnostic-algorithm
#10
Ágnes Sebők, Endre Pál, Gergő Attila Molnár, István Wittmann, Judit Berenténé Bene, Béla Melegh, Sámuel Komoly, Tibor Hidvégi, Lídia Balogh, Attila Szabó, Petra Zsidegh
We report the case of a 46-year-old female patient with recurrent rhabdomyolysis. In the background of her metabolic myopathy an inherited metabolic disorder of the fatty acid oxidation, very long-chain acyl-coenzyme A-dehydrogenase deficiency was diagnosed. The diagnosis was based on abnormal acyl-carnitine- and urine organic-acid profile in addition to low residual enzyme activity, and was confirmed by genetic testing. After introduction of dietotherapy metabolic crisis necessitating hospital admission has not occurred neither have fixed myopathic changes developed...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29143313/polyglucosan-myopathy-and-functional-characterization-of-a-novel-gyg1-mutation
#11
C Hedberg-Oldfors, A Mensch, K Visuttijai, G Stoltenburg, D Stoevesandt, T Kraya, A Oldfors, S Zierz
OBJECTIVES: Disorders of glycogen metabolism include rare hereditary muscle glycogen storage diseases with polyglucosan, which are characterized by storage of abnormally structured glycogen in muscle in addition to exercise intolerance or muscle weakness. In this study, we investigated the etiology and pathogenesis of a late-onset myopathy associated with glycogenin-1 deficiency. MATERIALS AND METHODS: A family with two affected siblings, 64- and 66-year-olds, was studied...
November 15, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/29139538/limitations-of-the-pax7-creer-t2-transgene-for-driving-deletion-of-nf1-in-adult-mouse-muscle
#12
Matthew A Summers, Kathy Mikulec, Lauren Peacock, David G Little, Aaron Schindeler
Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder that results in a variety of characteristic manifestations. Prior studies have shown reduced muscle size and global skeletal muscle weakness in children with NF1. This associated weakness can lead to significant challenges impacting on quality of life. Pre-clinical studies using a muscle-specific NF1 knockout mouse have linked this weakness to an underlying primary metabolic deficiency in the muscle. However, the neonatal lethality of this strain prevents analysis of the role of NF1 in adult muscle...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/29122469/sensitivity-of-whole-exome-sequencing-in-detecting-infantile-and-late-onset-pompe-disease
#13
Mari Mori, Gloria Haskell, Zoheb Kazi, Xiaolin Zhu, Stephanie M DeArmey, Jennifer L Goldstein, Deeksha Bali, Catherine Rehder, Elizabeth T Cirulli, Priya S Kishnani
Pompe disease is a metabolic myopathy with a wide spectrum of clinical presentation. The gold-standard diagnostic test is acid alpha-glucosidase assay on skin fibroblasts, muscle or blood. Identification of two GAA pathogenic variants in-trans is confirmatory. Optimal effectiveness of enzyme replacement therapy hinges on early diagnosis, which is challenging in late-onset form of the disease due to non-specific presentation. Next-generation sequencing-based panels effectively facilitate diagnosis, but the sensitivity of whole-exome sequencing (WES) in detecting pathogenic GAA variants remains unknown...
October 17, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29118420/aav-mediated-transcription-factor-eb-tfeb-gene-delivery-ameliorates-muscle-pathology-and-function-in-the-murine-model-of-pompe-disease
#14
Francesca Gatto, Barbara Rossi, Antonietta Tarallo, Elena Polishchuk, Roman Polishchuk, Alessandra Carrella, Edoardo Nusco, Filomena Grazia Alvino, Francesca Iacobellis, Elvira De Leonibus, Alberto Auricchio, Graciana Diez-Roux, Andrea Ballabio, Giancarlo Parenti
Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by extensive glycogen storage and impaired autophagy. We previously showed that modulation of autophagy and lysosomal exocytosis by overexpression of the transcription factor EB (TFEB) gene was effective in improving muscle pathology in PD mice injected intramuscularly with an AAV-TFEB vector. Here we have evaluated the effects of TFEB systemic delivery on muscle pathology and on functional performance, a primary measure of efficacy in a disorder like PD...
November 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29112723/in-vitro-and-in-vivo-studies-of-the-als-ftld-protein-chchd10-reveal-novel-mitochondrial-topology-and-protein-interactions
#15
S R Burstein, F Valsecchi, H Kawamata, M Bourens, R Zeng, A Zuberi, T A Milner, S M Cloonan, C Lutz, A Barrientos, G Manfredi
Mutations in coiled-coil-helix-coiled-coil-helix-domain containing 10 (CHCHD10), a mitochondrial twin CX9C protein whose function is still unknown, cause myopathy, motor neuron disease, frontotemporal dementia, and Parkinson's disease. Here, we investigate CHCHD10 topology and its protein interactome, as well as the effects of CHCHD10 depletion or expression of disease-associated mutations in wild-type cells. We find that CHCHD10 associates with membranes in the mitochondrial intermembrane space, where it interacts with a closely related protein, CHCHD2...
November 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29091741/skeletal-muscle-and-fetal-alcohol-spectrum-disorder
#16
Semone B Myrie, Mark A Pinder
Skeletal muscle is critical for mobility and many metabolic functions integral to survival and long-term health. Alcohol can affect skeletal muscle physiology and metabolism, which will have immediate and long-term consequences on health. While skeletal muscle abnormalities, including morphological, biochemical and functional impairments are well documented in adults consuming excessive alcohol, there is a scarcity of information about skeletal muscle in the prenatal alcohol exposure (PAE) offspring. This review examines the available studies addressing skeletal muscle abnormalities due to PAE...
November 1, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/29079705/a-novel-de-novo-dominant-mutation-in-iscu-associated-with-mitochondrial-myopathy
#17
Andrea Legati, Aurelio Reyes, Camilla Ceccatelli Berti, Oliver Stehling, Silvia Marchet, Costanza Lamperti, Alberto Ferrari, Alan J Robinson, Ulrich Mühlenhoff, Roland Lill, Massimo Zeviani, Paola Goffrini, Daniele Ghezzi
BACKGROUND: Hereditary myopathy with lactic acidosis and myopathy with deficiency of succinate dehydrogenase and aconitase are variants of a recessive disorder characterised by childhood-onset early fatigue, dyspnoea and palpitations on trivial exercise. The disease is non-progressive, but life-threatening episodes of widespread weakness, metabolic acidosis and rhabdomyolysis may occur. So far, this disease has been molecularly defined only in Swedish patients, all homozygous for a deep intronic splicing affecting mutation in ISCU encoding a scaffold protein for the assembly of iron-sulfur (Fe-S) clusters...
October 27, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29048924/de-novo-mutation-in-cacna1s-gene-in-a-20-year-old-man-diagnosed-with-metabolic-myopathy
#18
Masoud Edizadeh, Raheleh Vazehan, Fatemeh Javadi, Shima Dehdahsi, Mahsa Fadaee, Mehrshid Faraji Zonooz, Elham Parsimehr, Fatemeh Ahangari, Ayda Abolhassani, Zahra Kalhor, Zohreh Fattahi, Maryam Beheshtian, Ariana Kariminejad, Mohammad Reza Akbari, Hossein Najmabadi, Shahriar Nafissi
The calcium channel, voltage-dependent, L-type, alpha 1S subunit (CACNA1S) gene encodes a skeletal Ca2+ channel which is involved in calcium-dependent processes such as muscle contraction and neurotransmitter release. Mutations in this gene have been accompanied by hypo- and normokalemic periodic paralysis, thyrotoxic periodic paralysis, and susceptibility to malignant hyperthermia. We report the clinical and genetic findings in a patient diagnosed with metabolic myopathy who had episodic attacks of muscle pain and weakness but with no family background of the disease...
September 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/29043378/-neurogenic-myopathies-and-imaging-of-muscle-denervation
#19
REVIEW
M Wolf, C Wolf, M-A Weber
CLINICAL ISSUE: Neurogenic myopathies are primary diseases of the nervous system, which secondarily result in denervation of the target musculature. The spectrum of potential causes is manifold ranging from acute traumatic injuries and chronic compression to neurodegenerative, inflammatory, metabolic and neoplastic processes. STANDARD DIAGNOSTIC METHODS: The medical history, clinical neurological examination, and electrophysiological tests including electromyography and nerve conduction studies are crucial in diagnosing neuropathic myopathies...
October 17, 2017: Der Radiologe
https://www.readbyqxmd.com/read/29040646/statins-affect-skeletal-muscle-performance-evidence-for-disturbances-in-energy-metabolism
#20
Neeltje A E Allard, Tom J J Schirris, Rebecca J Verheggen, Frans G M Russel, Richard J Rodenburg, Jan A M Smeitink, Paul D Thompson, Maria T E Hopman, Silvie Timmers
Context: Statin myopathy is linked to disturbances in mitochondrial function and exercise intolerance. Objectives: To determine whether differences exist in exercise performance, muscle function and mitochondrial oxidative capacity and content between symptomatic and asymptomatic statin users, and non-statin using controls. Design: Cross-sectional study. Setting: Department of Physiology of the Radboud University Medical Center...
October 9, 2017: Journal of Clinical Endocrinology and Metabolism
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