4,373 results match your criteria Metabolic Myopathies


The Cutting Edge: The Role of mTOR Signaling in Laminopathies.

Int J Mol Sci 2019 Feb 15;20(4). Epub 2019 Feb 15.

CNR National Research Council of Italy, Institute of Molecular Genetics, Unit of Bologna, 40136 Bologna, Italy.

The mechanistic target of rapamycin (mTOR) is a ubiquitous serine/threonine kinase that regulates anabolic and catabolic processes, in response to environmental inputs. The existence of mTOR in numerous cell compartments explains its specific ability to sense stress, execute growth signals, and regulate autophagy. mTOR signaling deregulation is closely related to aging and age-related disorders, among which progeroid laminopathies represent genetically characterized clinical entities with well-defined phenotypes. Read More

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http://dx.doi.org/10.3390/ijms20040847DOI Listing
February 2019

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.

Nat Commun 2019 Feb 15;10(1):797. Epub 2019 Feb 15.

Instituto de Investigaciones Biomédicas "Alberto Sols", CSIC-UAM, 28029, Madrid, Spain.

FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Read More

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http://dx.doi.org/10.1038/s41467-019-08548-9DOI Listing
February 2019

Purine Homeostasis Is Necessary for Developmental Timing, Germline Maintenance and Muscle Integrity in .

Genetics 2019 Jan 30. Epub 2019 Jan 30.

Université de Bordeaux and CNRS UMR5095

Purine homeostasis is ensured through a metabolic network widely conserved from prokaryotes to humans. Purines can either be synthesized , reused, or produced by interconversion of extant metabolites using the so-called recycling pathway. Although thoroughly characterized in microorganisms, such as yeast or bacteria, little is known about the regulation of the purine biosynthesis network in metazoans. Read More

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http://dx.doi.org/10.1534/genetics.118.301062DOI Listing
January 2019

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.

Mol Cell Probes 2019 Jan 22. Epub 2019 Jan 22.

Medical Genetics Center, Munich, Germany; Department of Neurology, Friedrich-Baur-Institute, Klinikum der Ludwig-Maximilians-University, Munich, Germany. Electronic address:

The heterooctameric mitochondrial trifunctional protein (MTP), composed of four α- and β-subunits harbours three enzymes that each perform a different function in mitochondrial fatty acid β-oxidation. Pathogenic variants in the MTP genes (HADHA and HADHB) cause MTP deficiency, a rare autosomal recessive metabolic disorder characterized by phenotypic heterogeneity ranging from severe, early-onset, cardiac disease to milder, later-onset, myopathy and neuropathy. Since metabolic myopathies and neuropathies are a group of rare genetic disorders and their associated muscle symptoms may be subtle, the diagnosis is often delayed. Read More

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http://dx.doi.org/10.1016/j.mcp.2019.01.003DOI Listing
January 2019
1 Read

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

Am J Med Genet A 2019 Mar 16;179(3):386-396. Epub 2019 Jan 16.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

The ryanodine receptor 1 (RYR1) is a calcium release channel essential for excitation-contraction coupling in the sarcoplasmic reticulum of skeletal muscles. Dominant variants in the RYR1 have been well associated with the known pharmacogenetic ryanodinopathy and malignant hyperthermia. With the era of next-generation gene sequencing and growing number of causative variants, the spectrum of ryanodinopathies has been evolving with dominant and recessive variants presenting with RYR1-related congenital myopathies such as central core disease, minicore myopathy with external ophthalmoplegia, core-rod myopathy, and congenital neuromuscular disease. Read More

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http://dx.doi.org/10.1002/ajmg.a.61025DOI Listing
March 2019
1 Read

Impact of pharmacogenetics on statin-induced myopathy in South-Indian subjects.

Indian Heart J 2018 Dec 10;70 Suppl 3:S120-S125. Epub 2018 Aug 10.

Department of Clinical Pharmacology & Therapeutics, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, India.

Objectives: Statins are the most commonly prescribed medications for the treatment of atherosclerotic cardiovascular disease. Statin-associated adverse effects occur in ∼10% of patients and are associated with polymorphisms in several key genes coding for transporters and metabolizing enzymes that affect statin pharmacokinetics. In the present study, we examine the association between cytochrome P450 3A5*3 (CYP3A5*3) T>C (rs776746), COQ G>C (rs4693075), and SLCO1B1 T>C (rs4149056) genetic variants with the risk of myopathy in South Indian patients on statin therapy. Read More

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http://dx.doi.org/10.1016/j.ihj.2018.07.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309567PMC
December 2018
1 Read

[What's new in internal medicine?]

Authors:
M-S Doutre

Ann Dermatol Venereol 2018 Dec;145 Suppl 7:VIIS24-VIIS31

Service de dermatologie, hôpital Saint-André, CHU de Bordeaux, 1, rue Jean-Burget, 33000 Bordeaux, France. Electronic address:

What's new in internal medicine will be dedicated to three topics: i) inflammatory myopathies constituting a heterogenous group of diseases whose clinical manifestations, immunological abnormalities, treatment response and outcomes vary widely; ii) alterations of gut microbiota contributing to the occurrence or development of a range of conditions, including autoimmune diseases for which further work is necessary to understand the correlation of dysbiosis with these diseases; iii) the reciprocal relationship between obesity, metabolic syndrome, atherosclerosis and autoimmune diseases. New data concerning systemic sclerosis, cutaneous vasculitis, adult Still's disease, autoantibodies anti DFS70, Epstein Barr virus and autoimmune diseases were also highlighted. Read More

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http://dx.doi.org/10.1016/S0151-9638(18)31286-9DOI Listing
December 2018
7 Reads

6-Gingerol Improves Ectopic Lipid Accumulation, Mitochondrial Dysfunction, and Insulin Resistance in Skeletal Muscle of Ageing Rats: Dual Stimulation of the AMPK/PGC-1α Signaling Pathway via Plasma Adiponectin and Muscular AdipoR1.

Mol Nutr Food Res 2018 Dec 21:e1800649. Epub 2018 Dec 21.

Chongqing Key Laboratory of Traditional Chinese Medicine for Prevention and Cure of Metabolic Diseases, College of Traditional Chinese Medicine, Chongqing Medical University, Chongqing, China.

Scope: This study investigates the dual actions of 6-gingerol in stimulating both plasma adiponectin and muscular adiponectin receptor signaling in naturally ageing rats.

Methods And Results: Twenty-two-month-old male SD rats were treated with 6-gingerol (0.2 mg kg , once daily) for 7 weeks. Read More

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http://dx.doi.org/10.1002/mnfr.201800649DOI Listing
December 2018
1 Read

Alcohol Abuse.

Authors:
Tomáš Zima

EJIFCC 2018 Dec 5;29(4):285-289. Epub 2018 Dec 5.

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Chronic alcohol consumption is a world-wide socioeconomic problem. Three metabolic pathways of ethanol were describe in human - alcohol dehydrogenase (ADH), microsomal ethanol oxidizing system (MEOS, CYP2E1) and catalase. Ethanol directly bounds to different molecules (e. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295593PMC
December 2018

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

Front Neurol 2018 4;9:981. Epub 2018 Dec 4.

Molecular Medicine, Pisa, Italy.

Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Recent clinical use of next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach to HSP, but the power of NGS as a first-tier diagnostic procedure is unclear. The larger-than-expected genetic heterogeneity-there are over 80 potential disease-associated genes-and frequent overlap with other clinical conditions affecting the motor system make a molecular diagnosis in HSP cumbersome and time consuming. Read More

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https://www.frontiersin.org/article/10.3389/fneur.2018.00981
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http://dx.doi.org/10.3389/fneur.2018.00981DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289125PMC
December 2018
13 Reads

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks.

Nat Commun 2018 12 17;9(1):5342. Epub 2018 Dec 17.

University Medical Center Groningen, University of Groningen, Department of Biomedical Sciences of Cell & Systems, Groningen, AV, 9791, The Netherlands.

BAG3 is a multi-domain hub that connects two classes of chaperones, small heat shock proteins (sHSPs) via two isoleucine-proline-valine (IPV) motifs and Hsp70 via a BAG domain. Mutations in either the IPV or BAG domain of BAG3 cause a dominant form of myopathy, characterized by protein aggregation in both skeletal and cardiac muscle tissues. Surprisingly, for both disease mutants, impaired chaperone binding is not sufficient to explain disease phenotypes. Read More

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http://www.nature.com/articles/s41467-018-07718-5
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http://dx.doi.org/10.1038/s41467-018-07718-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297355PMC
December 2018
15 Reads

Intake of an Obesogenic Cafeteria Diet Affects Body Weight, Feeding Behavior, and Glucose and Lipid Metabolism in a Photoperiod-Dependent Manner in F344 Rats.

Front Physiol 2018 26;9:1639. Epub 2018 Nov 26.

Eurecat, Centre Tecnològic de Catalunya, Technological Unit of Nutrition and Health, Reus, Spain.

We previously demonstrated that chronic exposure to different photoperiods induced marked variations in several glucose and lipid metabolism-related parameters in normoweight Fischer 344 (F344) rats. Here, we examined the effects of the combination of an obesogenic cafeteria diet (CAF) and the chronic exposure to three different day lengths (L12, 12 h light/day; L18, 18 h light/day; and L6, 6 h light/day) in this rat strain. Although no changes were observed during the first 4 weeks of adaptation to the different photoperiods in which animals were fed a standard diet, the addition of the CAF for the subsequent 7 weeks triggered profound physiologic and metabolic alterations in a photoperiod-dependent manner. Read More

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http://dx.doi.org/10.3389/fphys.2018.01639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275206PMC
November 2018

Safety of statin drugs in patients with dyslipidemia and stable systemic autoimmune myopathies.

Rheumatol Int 2019 Feb 5;39(2):311-316. Epub 2018 Dec 5.

Division of Rheumatology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.

Recent studies have shown a high prevalence of dyslipidemia in patients with systemic autoimmune myopathies (SAM). However, little is known about the safety of the use of statins in these patients, and this gap in research motivated the accomplishment of the present study. In a retrospective cohort study conducted from 2004 to 2018, 250 patients with SAM were evaluated, and 24 patients had stable forms of SAM (16 dermatomyositis, 1 polymyositis and 7 antisynthetase syndrome) but had dyslipidemia and had received statins. Read More

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http://dx.doi.org/10.1007/s00296-018-4215-xDOI Listing
February 2019
3 Reads

An update on diagnosis and therapy of metabolic myopathies.

Authors:
Josef Finsterer

Expert Rev Neurother 2018 Dec 27;18(12):933-943. Epub 2018 Nov 27.

a Krankenanstalt Rudolfstiftung, Messerli Institute , Veterinary University of Vienna , Vienna , Austria.

Introduction: Metabolic myopathies are a heterogeneous group of disorders characterized by inherited defects of enzymatic pathways involved in muscle fiber energetics. Diagnosing metabolic myopathies requires a thoroughly taken individual and family history, a meticulous neurologic exam, exercise tests, blood and urine tests, needle-electromyography, nerve-conduction studies, muscle biopsy, targeted genetic tests, or next-generation sequencing. There is limited evidence from the literature to guide treatment of metabolic myopathies. Read More

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https://www.tandfonline.com/doi/full/10.1080/14737175.2018.1
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http://dx.doi.org/10.1080/14737175.2018.1550360DOI Listing
December 2018
10 Reads

Lipid Myopathies.

J Clin Med 2018 Nov 23;7(12). Epub 2018 Nov 23.

Unit of Neuromuscular Diseases, Department of Neurology, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Sant' Andrea Hospital, 00189 Rome, Italy.

Disorders of lipid metabolism affect several tissues, including skeletal and cardiac muscle tissues. Lipid myopathies (LM) are rare multi-systemic diseases, which most often are due to genetic defects. Clinically, LM can have acute or chronic clinical presentation. Read More

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http://dx.doi.org/10.3390/jcm7120472DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306737PMC
November 2018
2 Reads

Lack of muscle mTOR kinase activity causes early onset myopathy and compromises whole-body homeostasis.

J Cachexia Sarcopenia Muscle 2018 Nov 21. Epub 2018 Nov 21.

Institut NeuroMyoGene (INMG), Université Lyon 1, CNRS UMR 5310, INSERM U 1217, Lyon, France.

Background: The protein kinase mechanistic target of rapamycin (mTOR) controls cellular growth and metabolism. Although balanced mTOR signalling is required for proper muscle homeostasis, partial mTOR inhibition by rapamycin has beneficial effects on various muscle disorders and age-related pathologies. Besides, more potent mTOR inhibitors targeting mTOR catalytic activity have been developed and are in clinical trials. Read More

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http://dx.doi.org/10.1002/jcsm.12336DOI Listing
November 2018
15 Reads

IL-1β- and IL-4-polarized macrophages have opposite effects on adipogenesis of intramuscular fibro-adipogenic progenitors in humans.

Sci Rep 2018 Nov 19;8(1):17005. Epub 2018 Nov 19.

Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France.

Intramuscular fat deposition represents a negative prognostic factor for several myopathies, metabolic diseases and aging. Fibro-adipogenic progenitors (FAPs) are considered as the main source of intramuscular adipocytes, but the mechanisms controlling their adipogenic potential are still not elucidated in humans. The aim of this study was to explore the regulation of human FAP adipogenesis by macrophages. Read More

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http://www.nature.com/articles/s41598-018-35429-w
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http://dx.doi.org/10.1038/s41598-018-35429-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6242986PMC
November 2018
12 Reads

Two cases of glutaric aciduria type II: how to differentiate from inflammatory myopathies?

Acta Clin Belg 2018 Nov 19:1-5. Epub 2018 Nov 19.

b Faculty of Medicine, Department of Rheumatology , Hacettepe University , Ankara , Turkey.

Muscle weakness is a nonspecific finding of myopathy of any etiology that include iatrogenic, toxic, endocrinological, infectious, immunologic, and metabolic disorders. Among the metabolic myopathies glutaric aciduria type II (GAII) is an autosomal recessively inherited rare disorder of fatty acid and amino acid metabolisms. The late onset form is heterogeneous in terms of symptomatology and severity and for the cases that chronic manifestations of lipid storage myopathy are the only clues for the disease, differential diagnosis can be challenging. Read More

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https://www.tandfonline.com/doi/full/10.1080/17843286.2018.1
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http://dx.doi.org/10.1080/17843286.2018.1547244DOI Listing
November 2018
13 Reads

Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review.

J Am Coll Cardiol 2018 Nov;72(20):2485-2506

Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy.

Hereditary muscular diseases commonly involve the heart. Cardiac manifestations encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm disorders. Common biomarkers suggesting cardiomuscular diseases include increased circulating creatine kinase and/or lactic acid levels or disease-specific metabolic indicators. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07351097183858
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http://dx.doi.org/10.1016/j.jacc.2018.08.2182DOI Listing
November 2018
14 Reads

Newborn screening in mucopolysaccharidoses.

Ital J Pediatr 2018 Nov 16;44(Suppl 2):126. Epub 2018 Nov 16.

Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129, Padova, Italy.

Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outcome. It is recommended that mucopolysaccharidosis type I (MPS I) is included in the US newborn screening panel, and this is currently underway in some NBS programs in the world. The key factors in recommending MPS I for inclusion in NBS are the strongly improved efficacy of early-onset therapy and the improved performance of screening tests. Read More

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http://dx.doi.org/10.1186/s13052-018-0552-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238254PMC
November 2018
6 Reads

HIF prolyl hydroxylase inhibition protects skeletal muscle from eccentric contraction-induced injury.

Skelet Muscle 2018 11 13;8(1):35. Epub 2018 Nov 13.

Muscle Metabolism Discovery Performance Unit, GlaxoSmithKline, King of Prussia, PA, USA.

Background: In muscular dystrophy and old age, skeletal muscle repair is compromised leading to fibrosis and fatty tissue accumulation. Therefore, therapies that protect skeletal muscle or enhance repair would be valuable medical treatments. Hypoxia-inducible factors (HIFs) regulate gene transcription under conditions of low oxygen, and HIF target genes EPO and VEGF have been associated with muscle protection and repair. Read More

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https://skeletalmusclejournal.biomedcentral.com/articles/10.
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http://dx.doi.org/10.1186/s13395-018-0179-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234580PMC
November 2018
12 Reads

Association of Muscular Fitness and Body Fatness with Cardiometabolic Risk Factors: The FUPRECOL Study.

Nutrients 2018 Nov 12;10(11). Epub 2018 Nov 12.

Departamento de Enfermería, Facultad de Ciencias de la Salud, Avda. De la Ilustración, 60, Universidad de Granada, 18016 Granada, Spain.

This study investigated the associations of muscular fitness and various indicators of body fatness with cardio-metabolic risk factors and determined the muscular strength and body fatness thresholds for detecting a high risk of cardio-metabolic dysfunction in young adults. A cross-sectional study was conducted on 1798 collegiate students (61.5% females, mean age 20. Read More

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http://www.mdpi.com/2072-6643/10/11/1742
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http://dx.doi.org/10.3390/nu10111742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6266433PMC
November 2018
8 Reads

AMP-Activated Protein Kinase as a Key Trigger for the Disuse-Induced Skeletal Muscle Remodeling.

Int J Mol Sci 2018 Nov 12;19(11). Epub 2018 Nov 12.

Myology Laboratory, Institute of Biomedical Problems RAS, Moscow 123007, Russia.

Molecular mechanisms that trigger disuse-induced postural muscle atrophy as well as myosin phenotype transformations are poorly studied. This review will summarize the impact of 5' adenosine monophosphate -activated protein kinase (AMPK) activity on mammalian target of rapamycin complex 1 (mTORC1)-signaling, nuclear-cytoplasmic traffic of class IIa histone deacetylases (HDAC), and myosin heavy chain gene expression in mammalian postural muscles (mainly, soleus muscle) under disuse conditions, i.e. Read More

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http://www.mdpi.com/1422-0067/19/11/3558
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http://dx.doi.org/10.3390/ijms19113558DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6274864PMC
November 2018
11 Reads

A pattern-based approach to the interpretation of skeletal muscle biopsies.

Mod Pathol 2018 Nov 6. Epub 2018 Nov 6.

Department of Pathology, University of Chicago, Chicago, IL, USA.

The interpretation of muscle biopsies is complex and provides the most useful information when integrated with the clinical presentation of the patient. These biopsies are performed for workup of a wide range of diseases including dystrophies, metabolic diseases, and inflammatory processes. Recent insights have led to changes in the classification of inflammatory myopathies and have changed the role that muscle biopsies have in the workup of inherited diseases. Read More

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http://www.nature.com/articles/s41379-018-0164-x
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http://dx.doi.org/10.1038/s41379-018-0164-xDOI Listing
November 2018
9 Reads

Muscular Atrophy in Cardiovascular Disease.

Adv Exp Med Biol 2018 ;1088:369-391

Graduate Program in Health Sciences, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil.

Currently, the number of chronic diseases has increased due to increasing in life expectancy of population. Among them, cardiovascular diseases (CVD) are the most prevalent and responsible for the high mortality and morbidity rates. Patients with CVD have metabolic, hemodynamic, and musculoskeletal changes. Read More

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http://link.springer.com/10.1007/978-981-13-1435-3_17
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http://dx.doi.org/10.1007/978-981-13-1435-3_17DOI Listing
January 2018
11 Reads

Triple A syndrome presenting as complicated hereditary spastic paraplegia.

Mol Genet Genomic Med 2018 11 31;6(6):1134-1139. Epub 2018 Oct 31.

Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.

Background: Hereditary spastic paraplegia (HSP) is a group of rare disorders characterized by spastic paraparesis and other symptoms. Often, other diseases can mimic HSP, which may delay diagnosis and treatment.

Methods: Whole exome sequencing was performed in families with clinically suspected HSP without a genetic diagnosis. Read More

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http://doi.wiley.com/10.1002/mgg3.492
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http://dx.doi.org/10.1002/mgg3.492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305671PMC
November 2018
6 Reads

Whole-body MRI and pathological findings in adult patients with myopathies.

Skeletal Radiol 2018 Oct 30. Epub 2018 Oct 30.

Department of Internal Medicine, Hospital Clinic, Universitat de Barcelona (UB) and CIBERER, Villarroel 170, 08036, Barcelona, Spain.

Magnetic resonance imaging (MRI) is considered the most sensitive and specific imaging technique for the detection of muscle diseases related to myopathies. Since 2008, the use of whole-body MRI (WBMRI) to evaluate myopathies has improved due to technical advances such as rolling table platform and parallel imaging, which enable rapid assessment of the entire musculoskeletal system with high-quality images. WBMRI protocols should include T1-weighted and short-tau inversion recovery (STIR), which provide the basic pulse sequences for studying myopathies, in order to detect fatty infiltration/muscle atrophy and muscle edema, respectively. Read More

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http://link.springer.com/10.1007/s00256-018-3107-1
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http://dx.doi.org/10.1007/s00256-018-3107-1DOI Listing
October 2018
17 Reads

Avian selenogenome: response to dietary Se and vitamin E deficiency and supplementation.

Poult Sci 2018 Oct 27. Epub 2018 Oct 27.

Beijing Advanced Innovation Center for Food Nutrition and Human Health, China Agricultural University, Beijing 100083, China.

Selenium (Se) is an essential nutrient for humans and all food-producing animal species. Nutritional deficiencies of Se and (or) vitamin E induce exudative diathesis, nutritional pancreatic atrophy, and nutritional muscular dystrophy in chicks. Although these diseases are presumably associated with the need of Se for the synthesis of the 21st amino acid, selenocysteine (Sec, U) in selenoproteins, metabolic functions of the 25 selenoproteins identified in avian species remain largely unknown. Read More

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http://dx.doi.org/10.3382/ps/pey408DOI Listing
October 2018
4 Reads

Resistance Exercise Training in McArdle Disease: Myth or Reality?

Case Rep Neurol Med 2018 30;2018:9658251. Epub 2018 Sep 30.

MRC Centre for Neuromuscular Diseases, Institute of Neurology, Queen Square, London, UK.

McArdle disease is a metabolic myopathy mainly characterised by symptom onset during physical activities or isometric muscle contraction. Resistance (also termed strength) training is a type of physical exercise focusing on the use of resistance (e.g. Read More

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https://www.hindawi.com/journals/crinm/2018/9658251/
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http://dx.doi.org/10.1155/2018/9658251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186374PMC
September 2018
8 Reads

Rhabdomyolysis with Peripheral Neuropathy: A Case Series and Literature Review.

Am J Case Rep 2018 Oct 26;19:1272-1278. Epub 2018 Oct 26.

Department of Internal Medicine, Haeundae Paik Hospital, Inje University College of Medicine, Busan, South Korea.

BACKGROUND Rhabdomyolysis is a syndrome characterized by muscle necrosis and secretion of intracellular muscle components into the blood circulation. Acute compartment syndrome is a potential complication of severe rhabdomyolysis. CASE REPORT We report 3 cases of compartment syndrome-related peripheral neuropathy in alcoholic individuals with rhabdomyolysis. Read More

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https://www.amjcaserep.com/abstract/index/idArt/911602
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http://dx.doi.org/10.12659/AJCR.911602DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214146PMC
October 2018
10 Reads

Exploring the Potential Effectiveness of Combining Optimal Nutrition With Electrical Stimulation to Maintain Muscle Health in Critical Illness: A Narrative Review.

Nutr Clin Pract 2018 Dec 25;33(6):772-789. Epub 2018 Oct 25.

Department of Kinesiology, University of Waterloo, Ontario, Canada.

Muscle wasting occurs rapidly within days of an admission to the intensive care unit (ICU). Concomitant muscle weakness and impaired physical functioning can ensue, with lasting effects well after hospital discharge. Early physical rehabilitation is a promising intervention to minimize muscle weakness and physical dysfunction. Read More

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http://doi.wiley.com/10.1002/ncp.10213
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http://dx.doi.org/10.1002/ncp.10213DOI Listing
December 2018
5 Reads

Role of neuronal nitric oxide synthase (nNOS) in Duchenne and Becker muscular dystrophies - Still a possible treatment modality?

Neuromuscul Disord 2018 Nov 11;28(11):914-926. Epub 2018 Sep 11.

Department of Neurology, Neurovascular Research Unit, Herlev Gentofte Hospital, University of Copenhagen, Denmark; PDE Research Group, Lundbeck Foundation Center for Neurovascular Research (LUCENS), Denmark. Electronic address:

Neuronal nitric oxide synthase (nNOS) is involved in nitric oxide (NO) production and suggested to play a crucial role in blood flow regulation of skeletal muscle. During activation of the muscle, NO helps attenuate the sympathetic vasoconstriction to accommodate increased metabolic demands, a phenomenon known as functional sympatholysis. In inherited myopathies such as the dystrophinopathies Duchenne and Becker muscle dystrophies (DMD and BMD), nNOS is lost from the sarcolemma. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183019
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http://dx.doi.org/10.1016/j.nmd.2018.09.001DOI Listing
November 2018
10 Reads

Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

Physiol Genomics 2018 Nov 31;50(11):929-939. Epub 2018 Aug 31.

Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine , Gainesville, Florida.

Next-generation sequencing is commonly used to screen for pathogenic mutations in families with Mendelian disorders, but due to the pace of discoveries, gaps have widened for some diseases between genetic and pathophysiological knowledge. We recruited and analyzed 16 families with limb-girdle muscular dystrophy (LGMD) of Arab descent from Saudi Arabia and Sudan who did not have confirmed genetic diagnoses. The analysis included both traditional and next-generation sequencing approaches. Read More

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http://dx.doi.org/10.1152/physiolgenomics.00036.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293114PMC
November 2018
6 Reads
1 Citation
2.374 Impact Factor

Role of autophagy in inherited metabolic and endocrine myopathies.

Biochim Biophys Acta Mol Basis Dis 2019 Jan 18;1865(1):48-55. Epub 2018 Oct 18.

Center for Cardiovascular Research and Alternative Medicine, University of Wyoming College of Health Sciences, Laramie, WY 82071, USA. Electronic address:

The prevalence of cardiometabolic disease has reached an exponential rate of rise over the last decades owing to high fat/high caloric diet intake and satiety life style. Although the presence of dyslipidemia, insulin resistance, hypertension and obesity mainly contributes to the increased incidence of cardiometabolic diseases, population-based, clinical and genetic studies have revealed a rather important role for inherited myopathies and endocrine disorders in the ever-rising metabolic anomalies. Inherited metabolic and endocrine diseases such as glycogen storage and lysosomal disorders have greatly contributed to the overall prevalence of cardiometabolic diseases. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09254439183040
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http://dx.doi.org/10.1016/j.bbadis.2018.10.023DOI Listing
January 2019
10 Reads

RAGE in the pathophysiology of skeletal muscle.

J Cachexia Sarcopenia Muscle 2018 Dec 18;9(7):1213-1234. Epub 2018 Oct 18.

Department of Experimental Medicine, University of Perugia, Perugia, Italy.

Emerging evidence suggests that the signalling of the Receptor for Advanced Glycation End products (RAGE) is critical for skeletal muscle physiology controlling both the activity of muscle precursors during skeletal muscle development and the correct time of muscle regeneration after acute injury. On the other hand, the aberrant re-expression/activity of RAGE in adult skeletal muscle is a hallmark of muscle wasting that occurs in response to ageing, genetic disorders, inflammatory conditions, cancer, and metabolic alterations. In this review, we discuss the mechanisms of action and the ligands of RAGE involved in myoblast differentiation, muscle regeneration, and muscle pathological conditions. Read More

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http://doi.wiley.com/10.1002/jcsm.12350
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http://dx.doi.org/10.1002/jcsm.12350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351676PMC
December 2018
4 Reads

Hypertensive Crisis with Neurological Impairment Mimicking a Guillain-Barrè Syndrome: Searching for a Link.

High Blood Press Cardiovasc Prev 2018 Dec 8;25(4):421-424. Epub 2018 Oct 8.

Studium Patavium (Formerly Department of Medicine), University of Padova, Padua, Italy.

Guillain-Barré syndrome (GBS) may be complicated by severe hypertension (HT) and in turns severe HT can occur with neurological damage mimicking a GBS, so that underlying causes should be investigated. We describe a case of a 62-year-old woman presented to the emergency department for hypertensive crisis with symmetric flaccid paralysis, hypotonia and hyporeflexia of both upper and lower limbs. Brain computed tomography, magnetic resonance imaging and lumbar puncture were normal. Read More

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http://dx.doi.org/10.1007/s40292-018-0283-yDOI Listing
December 2018
3 Reads

Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.

Curr Med Res Opin 2019 Mar 9;35(3):543-552. Epub 2018 Nov 9.

d Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Universitaire Robert Debré , Service d'endocrinologie diabétologie pédiatrique, Centre de Compétence des Pathologies Rares de l'Insulino-Sécrétion et de l'Insulino-Sensibilité (PRISIS) , Paris , France.

Background: Lipodystrophic syndromes are rare diseases of genetic or acquired origin characterized by partial or generalized lack of body fat. Early detection and diagnosis are crucial to prevent and manage associated metabolic dysfunctions, i.e. Read More

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https://www.tandfonline.com/doi/full/10.1080/03007995.2018.1
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http://dx.doi.org/10.1080/03007995.2018.1533459DOI Listing
March 2019
7 Reads

Cardiometabolic assessment of lamin A/C gene mutation carriers: A phenotype-genotype correlation.

Diabetes Metab 2018 Oct 1. Epub 2018 Oct 1.

CHU de Lille, Endocrinology, Diabetology and Metabolism, Université de Lille, Inserm, UMR 1190, Translational research in diabetes, European Genomic Institute for Diabetes (EGID), 59000 Lille, France. Electronic address:

Aims: Mutations of the LMNA gene encoding lamin A/C induce heterogeneous phenotypes ranging from cardiopathies and myopathies to lipodystrophies. The aim of this study was to compare cardiometabolic complications in patients with heterozygous LMNA mutations at the 482nd codon, the 'hotspot' for partial lipodystrophy, with carriers of other, non-R482 LMNA mutations.

Methods And Results: This study included 29 patients with R482 LMNA mutations, 29 carriers of non-R482 LMNA mutation and 19 control subjects. Read More

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http://dx.doi.org/10.1016/j.diabet.2018.09.006DOI Listing
October 2018
2 Reads

A nutrient cocktail prevents lipid metabolism alterations induced by 20 days of daily steps reduction and fructose overfeeding: result from a randomized study.

J Appl Physiol (1985) 2019 Jan 4;126(1):88-101. Epub 2018 Oct 4.

National Institute for Cellular Biotechnology and School of Health and Human Performance, Dublin City University , Dublin , Ireland.

Physical inactivity and sedentary behaviors are independent risk factors for numerous diseases. We examined the ability of a nutrient cocktail composed of polyphenols, omega-3 fatty acids, vitamin E, and selenium to prevent the expected metabolic alterations induced by physical inactivity and sedentary behaviors. Healthy trained men ( n = 20) (averaging ∼14,000 steps/day and engaged in sports) were randomly divided into a control group (no supplementation) and a cocktail group for a 20-day free-living intervention during which they stopped exercise and decreased their daily steps (averaging ∼3,000 steps/day). Read More

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http://dx.doi.org/10.1152/japplphysiol.00018.2018DOI Listing
January 2019
4 Reads

RNA modification landscape of the human mitochondrial tRNA regulates protein synthesis.

Nat Commun 2018 09 27;9(1):3966. Epub 2018 Sep 27.

Institute of Biotechnology, University of Helsinki, Helsinki, 00014, Finland.

Post-transcriptional RNA modifications play a critical role in the pathogenesis of human mitochondrial disorders, but the mechanisms by which specific modifications affect mitochondrial protein synthesis remain poorly understood. Here we used a quantitative RNA sequencing approach to investigate, at nucleotide resolution, the stoichiometry and methyl modifications of the entire mitochondrial tRNA pool, and establish the relevance to human disease. We discovered that a N-methyladenosine (mA) modification is missing at position 58 in the mitochondrial tRNA of patients with the mitochondrial DNA mutation m. Read More

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http://www.nature.com/articles/s41467-018-06471-z
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http://dx.doi.org/10.1038/s41467-018-06471-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160436PMC
September 2018
17 Reads
10.742 Impact Factor

Acute Respiratory Infection Unveiling CPT II Deficiency.

Int J Mol Sci 2018 Sep 27;19(10). Epub 2018 Sep 27.

Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France.

Carnitine Palmitoyl transferase 2 (CPT II) is involved in long-chain fatty-acid mitochondrial transport. Three clinical phenotypes of CPT II deficiency have been described: Lethal neonatal onset, infantile severe form, and the late onset more common muscular form. The muscular form of CPT II deficiency is characterized by pain crises and rhabdomyolysis triggered by energy-dependent factors. Read More

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http://dx.doi.org/10.3390/ijms19102950DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6213613PMC
September 2018
5 Reads

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Orphanet J Rare Dis 2018 Sep 26;13(1):170. Epub 2018 Sep 26.

Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit and Child Neurology, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018, Pisa, Italy.

Background: Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dystroglycan. To date, mutations in at least 19 genes have been associated with α-DG. One of them, GMPPB, encoding the guanosine-diphosphate-mannose (GDP-mannose) pyrophosphorylase B protein, has recently been associated with a wide clinical spectrum ranging from severe Walker-Warburg syndrome to pseudo-metabolic myopathy and even congenital myasthenic syndromes. Read More

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http://dx.doi.org/10.1186/s13023-018-0863-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158856PMC
September 2018
11 Reads

CoQ supplementation rescues nephrotic syndrome through normalization of HS oxidation pathway.

Biochim Biophys Acta Mol Basis Dis 2018 11 6;1864(11):3708-3722. Epub 2018 Sep 6.

Department of Neurology, Columbia University Medical Center, New York, NY, United States. Electronic address:

Nephrotic syndrome (NS), a frequent chronic kidney disease in children and young adults, is the most common phenotype associated with primary coenzyme Q (CoQ) deficiency and is very responsive to CoQ supplementation, although the pathomechanism is not clear. Here, using a mouse model of CoQ deficiency-associated NS, we show that long-term oral CoQ supplementation prevents kidney failure by rescuing defects of sulfides oxidation and ameliorating oxidative stress, despite only incomplete normalization of kidney CoQ levels and lack of rescue of CoQ-dependent respiratory enzymes activities. Liver and kidney lipidomics, and urine metabolomics analyses, did not show CoQ metabolites. Read More

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http://dx.doi.org/10.1016/j.bbadis.2018.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181133PMC
November 2018
2 Reads

Plasma metabonomics investigation reveals involvement of fatty acid oxidation in hematotoxicity in Chinese benzene-exposed workers with low white blood cell count.

Environ Sci Pollut Res Int 2018 Nov 20;25(32):32506-32514. Epub 2018 Sep 20.

Key Laboratory of Environmental Medicine Engineering, Ministry of Education, School of Public Health, Southeast University, Nanjing, 210009, Jiangsu, China.

Benzene is an environmental and occupational contaminant. Health hazards associated with occupational benzene exposure is a major public health problem in China. In this study, we analyzed metabolite profiles among plasma samples collected from benzene-exposed workers with low white blood cell count (BLWs) and healthy controls using high-performance liquid chromatography-time-of-flight mass spectrometry. Read More

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http://dx.doi.org/10.1007/s11356-018-3160-2DOI Listing
November 2018
2 Reads

Newborn foal with atypical myopathy.

J Vet Intern Med 2018 Sep 14;32(5):1768-1772. Epub 2018 Sep 14.

Faculty of Veterinary Medicine, Equine Clinic, University of Veterinary and Pharmaceutical Sciences, Brno, Czech Republic.

The case of atypical myopathy (AM) in newborn Haflinger foal with clinical signs of depression and weakness appearing 6 hours after birth resulting in recumbency 12 hours after birth is described. The foal's dam was diagnosed with AM in the 6th month of gestation based on clinical signs of a myopathy, elevated serum activity of creatine kinase, metabolomic analysis and the presence of methylenecyclopropyl acetyl carnitine (MCPA-carnitine) in the blood. At the time of delivery, the mare was grazing on a pasture near sycamore trees but was free of clinical signs of AM. Read More

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http://dx.doi.org/10.1111/jvim.15236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189353PMC
September 2018

MELAS: Monitoring treatment with magnetic resonance spectroscopy.

Acta Neurol Scand 2019 Jan 8;139(1):82-85. Epub 2018 Oct 8.

LAC Olive View, UCLA Medical Center, Sylmar, California.

Background: To assess the utility of Magnetic Resonance Spectroscopy (MRS) as a biomarker of response to L-arginine in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS).

Aims: To describe a case of MELAS treated with L-arginine that showed improvement clinically and on serial MRS METHODS: MRS was performed on a 1.5-Tesla scanner to evaluate a MELAS patient before, during, and after intravenous (IV) L-arginine therapy for the treatment of stroke-like episodes. Read More

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http://doi.wiley.com/10.1111/ane.13027
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http://dx.doi.org/10.1111/ane.13027DOI Listing
January 2019
11 Reads

Body composition and body mass index in Duchenne muscular dystrophy: Role of dietary intake.

Muscle Nerve 2019 Mar 12;59(3):295-302. Epub 2018 Dec 12.

Laboratorio de Nutrición Molecular, Unidad de Investigación Médica en Nutrición, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Ciudad de México, México.

Introduction: In Duchenne muscular dystrophy (DMD) muscle is replaced by adipose tissue. The role of dietary intake (DI) in DMD has not been evaluated. In this study we examined body composition, body mass index (BMI), and adequacy of DI in patients with DMD and evaluated the influence of DI on body composition. Read More

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http://dx.doi.org/10.1002/mus.26340DOI Listing
March 2019
4 Reads
2.283 Impact Factor

Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.

PLoS One 2018 29;13(8):e0203198. Epub 2018 Aug 29.

Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, DHHS, Research Triangle Park, NC, United States of America.

Mutations in mitochondrial DNA (mtDNA) have been linked to a variety of metabolic, neurological and muscular diseases which can present at any time throughout life. MtDNA is replicated by DNA polymerase gamma (Pol γ), twinkle helicase and mitochondrial single-stranded binding protein (mtSSB). The Pol γ holoenzyme is a heterotrimer consisting of the p140 catalytic subunit and a p55 homodimeric accessory subunit encoded by the nuclear genes POLG and POLG2, respectively. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0203198PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6114919PMC
February 2019
9 Reads

Cell-Specific "Competition for Calories" Drives Asymmetric Nutrient-Energy Partitioning, Obesity, and Metabolic Diseases in Human and Non-human Animals.

Front Physiol 2018 10;9:1053. Epub 2018 Aug 10.

Center for Human Nutrition, University of Colorado Health Sciences Center, Denver, CO, United States.

The mammalian body is a complex physiologic "ecosystem" in which cells compete for calories (i.e., nutrient-energy). Read More

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https://www.frontiersin.org/article/10.3389/fphys.2018.01053
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http://dx.doi.org/10.3389/fphys.2018.01053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097573PMC
August 2018
5 Reads