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[PMID]:27859426
[Au] Autor:Henning F; Cunninghame CA; Martín MA; Rubio JC; Arenas J; Lucia A; HernáNdez-Laín A; Kohn TA
[Ad] Endereço:Division of Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, PO Box 115, Newlands, 7725, South Africa.
[Ti] Título:Muscle fiber type proportion and size is not altered in mcardle disease.
[So] Source:Muscle Nerve;55(6):916-918, 2017 Jun.
[Is] ISSN:1097-4598
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: McArdle disease is a metabolic myopathy that presents with exercise intolerance and episodic rhabdomyolysis. Excessive muscle recruitment has also been shown to be present during strenuous exercise, suggesting decreased power output. These findings could potentially be explained by either impaired contractility, decreased fiber size, or altered fiber type proportion. However, there is a paucity of data on the morphological features seen on muscle histology. METHODS: We examined muscle biopsies of patients with McArdle disease from a Spanish cohort and compared the findings with healthy controls. RESULTS: We found no significant difference in the fiber type proportion or mean fiber size between McArdle patients and controls in the biceps brachii or vastus lateralis muscles. CONCLUSIONS: No alterations in muscle fiber type proportion or size were found on muscle histology of patients with McArdle disease. Future research should focus on assessment of muscle fiber contractility to investigate the functional impairment. Muscle Nerve 55: 916-918, 2017.
[Mh] Termos MeSH primário: Doença de Depósito de Glicogênio Tipo V/patologia
Fibras Musculares Esqueléticas
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Biópsia
Estudos de Coortes
Feminino
Seres Humanos
Masculino
Meia-Idade
Fibras Musculares Esqueléticas/classificação
Fibras Musculares Esqueléticas/patologia
Fibras Musculares Esqueléticas/fisiologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161119
[St] Status:MEDLINE
[do] DOI:10.1002/mus.25472


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[PMID]:27899787
[Au] Autor:Scalco RS; Chatfield S; Junejo MH; Booth S; Pattni J; Godfrey R; Quinlivan R
[Ad] Endereço:MRC Centre for Neuromuscular Diseases and Division of Neuropathology, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.
[Ti] Título:McArdle Disease Misdiagnosed as Meningitis.
[So] Source:Am J Case Rep;17:905-908, 2016 Nov 30.
[Is] ISSN:1941-5923
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND McArdle disease is a glycogen storage disorder mainly characterized by exercise intolerance. Prolonged muscle contracture is also a feature of this condition and may lead to rhabdomyolysis (RM), which is a serious event characterized by acute skeletal muscle damage.  CASE REPORT A 44-year-old female patient presented with an acute contracture of the posterior neck muscles, causing severe nuchal rigidity. The contracture was induced during a dental extraction as she held her mouth open for a prolonged period, with her neck in a rigid position. She presented with severe pain in her ear and head, as well as fever, vomiting, and confusion. Based on her symptoms, she was initially misdiagnosed with bacterial meningitis and experienced an acute allergic reaction to the systemic penicillin she was subsequently administered. Lumbar puncture results were normal. High serum creatine kinase (CK) levels, recurrent exercise-related muscle symptoms, and a previous history of recurrent myoglobinuria raised the suspicion of an underlying neuromuscular condition. McArdle disease was confirmed by muscle biopsy and a genetic test, which revealed that the patient was homozygous for the R50X mutation in the PYGM gene. CONCLUSIONS This case illustrates that even seemingly innocuous movements, if rapid isotonic or prolonged isometric in nature, can elicit a muscle contracture in McArdle disease patients. Here, we highlight the need for careful management in this patient population even during routine healthcare procedures. The allergic reaction to antibiotics emphasises that misdiagnoses may result in iatrogenic harm.
[Mh] Termos MeSH primário: Creatina Quinase/sangue
Erros de Diagnóstico
Doença de Depósito de Glicogênio Tipo V/diagnóstico
Doença de Depósito de Glicogênio Tipo V/genética
Meningite/diagnóstico
Mutação
[Mh] Termos MeSH secundário: Adulto
Biomarcadores/sangue
Biópsia
Diagnóstico Diferencial
Feminino
Doença de Depósito de Glicogênio Tipo V/complicações
Homozigoto
Seres Humanos
Músculo Esquelético/patologia
Rabdomiólise/etiologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); EC 2.7.3.2 (Creatine Kinase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170320
[Lr] Data última revisão:
170320
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161201
[St] Status:MEDLINE


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[PMID]:27760513
[Au] Autor:Joshi PR; Apitz T; Zierz S
[Ad] Endereço:a Department of Neurology , Martin-Luther-University Halle-Wittenberg , Halle (Saale) , Germany.
[Ti] Título:Normal activities of AMP-deaminase and adenylate kinase in patients with McArdle disease.
[So] Source:Neurol Res;38(12):1052-1055, 2016 Dec.
[Is] ISSN:1743-1328
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:During physical activity in McArdle patients, little or no lactate is released in the skeletal muscle. However, excessive ammonia production has frequently been reported in these patients. Production of ammonia is catalysed by AMP deaminase (AMPD) and adenylate kinase (AK). The activities of AMPD and AK along with housekeeping enzyme phosphoglucoisomerase (PGI) were measured in 11 genetically confirmed McArdle patients and compared with 27 healthy controls. The AMPD and AK activities were not significantly different in patients and controls. The activity of PGI was significantly higher in patients than in controls suggesting compensation of the impaired glycogenolysis in McArdle. The ratios of activities of AMPD and AK over PGI were significantly lower in patients than in controls. High ammonia production in McArdle patients is not based on enzyme induction of AMPD and AK but possibly due to kinetic activation of the enzyme AMPD by increased concentration of the substrate AMP.
[Mh] Termos MeSH primário: AMP Desaminase/metabolismo
Adenilato Quinase/metabolismo
Doença de Depósito de Glicogênio Tipo V/enzimologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Feminino
Antebraço/fisiologia
Seres Humanos
Ácido Láctico/metabolismo
Masculino
Meia-Idade
Fosfoglucomutase/metabolismo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
33X04XA5AT (Lactic Acid); EC 2.7.4.3 (Adenylate Kinase); EC 3.5.4.6 (AMP Deaminase); EC 5.4.2.2 (Phosphoglucomutase)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170124
[Lr] Data última revisão:
170124
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161021
[St] Status:MEDLINE


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[PMID]:27300253
[Au] Autor:Torner S; Tinel C; Soltani Z; Rifle G; Mousson C
[Ad] Endereço:Department of Nephrology-Transplantation University Hospital Dijon, France Association Néphrologie-Dialyse-Transplantation Dijon, France Department of Nephrology-Transplantation University Hospital Dijon, France christiane.mousson@chu-dijon.fr.
[Ti] Título:Rhabdomyolysis With Acute Renal Failure Requiring Dialysis in McArdle Disease: A Role for the Antidepressant Venlafaxine?
[So] Source:J Clin Psychopharmacol;36(4):406-8, 2016 Aug.
[Is] ISSN:1533-712X
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Lesão Renal Aguda/etiologia
Doença de Depósito de Glicogênio Tipo V/complicações
Rabdomiólise/etiologia
Inibidores da Recaptação de Serotonina e Norepinefrina/efeitos adversos
Cloridrato de Venlafaxina/efeitos adversos
[Mh] Termos MeSH secundário: Lesão Renal Aguda/induzido quimicamente
Adulto
Feminino
Seres Humanos
Diálise Renal
Rabdomiólise/induzido quimicamente
[Pt] Tipo de publicação:LETTER
[Nm] Nome de substância:
0 (Serotonin and Noradrenaline Reuptake Inhibitors); 7D7RX5A8MO (Venlafaxine Hydrochloride)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170412
[Lr] Data última revisão:
170412
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160615
[St] Status:MEDLINE
[do] DOI:10.1097/JCP.0000000000000531


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[PMID]:27280431
[Au] Autor:Krag TO; Pinós T; Nielsen TL; Duran J; García-Rocha M; Andreu AL; Vissing J
[Ad] Endereço:Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; thomas.krag@regionh.dk.
[Ti] Título:Differential glucose metabolism in mice and humans affected by McArdle disease.
[So] Source:Am J Physiol Regul Integr Comp Physiol;311(2):R307-14, 2016 Aug 01.
[Is] ISSN:1522-1490
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:McArdle disease (muscle glycogenosis type V) is a disease caused by myophosphorylase deficiency leading to "blocked" glycogen breakdown. A significant but varying glycogen accumulation in especially distal hind limb muscles of mice affected by McArdle disease has recently been demonstrated. In this study, we investigated how myophosphorylase deficiency affects glucose metabolism in hind limb muscle of 20-wk-old McArdle mice and vastus lateralis muscles from patients with McArdle disease. Western blot analysis and activity assay demonstrated that glycogen synthase was inhibited in glycolytic muscle from McArdle mice. The level and activation of proteins involved in contraction-induced glucose transport (AMPK, GLUT4) and glycogen synthase inhibition were increased in quadriceps muscle of McArdle mice. In addition, pCaMKII in quadriceps was reduced, suggesting lower insulin-induced glucose uptake, which could lead to lower glycogen accumulation. In comparison, tibialis anterior, extensor digitorum longus, and soleus had massive glycogen accumulation, but few, if any, changes or adaptations in glucose metabolism compared with wild-type mice. The findings suggest plasticity in glycogen metabolism in the McArdle mouse that is related to myosin heavy chain type IIB content in muscles. In patients, the level of GLUT4 was vastly increased, as were hexokinase II and phosphofructokinase, and glycogen synthase was more inhibited, suggesting that patients adapt by increasing capture of glucose for direct metabolism, thereby significantly reducing glycogen buildup compared with the mouse model. Hence, the McArdle mouse may be a useful tool for further comparative studies of disease mechanism caused by myophosphorylase deficiency and basic studies of metabolic adaptation in muscle.
[Mh] Termos MeSH primário: Glucose/metabolismo
Doença de Depósito de Glicogênio Tipo V/metabolismo
Complexos Multienzimáticos
Músculo Esquelético/metabolismo
[Mh] Termos MeSH secundário: Adolescente
Adulto
Animais
Feminino
Seres Humanos
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Meia-Idade
Especificidade da Espécie
Adulto Jovem
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Multienzyme Complexes); IY9XDZ35W2 (Glucose)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170626
[Lr] Data última revisão:
170626
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160610
[St] Status:MEDLINE
[do] DOI:10.1152/ajpregu.00489.2015


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[PMID]:27031745
[Au] Autor:Fiuza-Luces C; Nogales-Gadea G; García-Consuegra I; Pareja-Galeano H; Rufián-Vázquez L; Pérez LM; Andreu AL; Arenas J; Martín MA; Pinós T; Lucia A; Morán M
[Ad] Endereço:1Mitochondrial and Neuromuscular Diseases Laboratory and "MITOLAB-CM," Research Institute of Hospital "12 de Octubre" ("i + 12"), Madrid, SPAIN; 2Neuromuscular and Neuropediatric Research Group, Neurosciences Department, Germans Trias i Pujol Research Institute and Campus Can Ruti, Autonomous University of Barcelona, Badalona, SPAIN; 3Department of Research and Doctorate Studies, European University, Madrid, SPAIN; 4Neuromuscular and Mitochondrial Pathology Department, Vall d'Hebron University Hospital, Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, SPAIN; and 5Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Madrid, SPAIN.
[Ti] Título:Muscle Signaling in Exercise Intolerance: Insights from the McArdle Mouse Model.
[So] Source:Med Sci Sports Exerc;48(8):1448-58, 2016 Aug.
[Is] ISSN:1530-0315
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: We recently generated a knock-in mouse model (PYGM p.R50X/p.R50X) of the McArdle disease (myophosphorylase deficiency). One mechanistic approach to unveil the molecular alterations caused by myophosphorylase deficiency, which is arguably the paradigm of "exercise intolerance," is to compare the skeletal muscle tissue of McArdle, heterozygous, and healthy (wild-type [wt]) mice. METHODS: We analyzed in quadriceps muscle of p.R50X/p.R50X (n = 4), p.R50X/wt (n = 6), and wt/wt mice (n = 5) (all male, 8 wk old) molecular markers of energy-sensing pathways, oxidative phosphorylation and autophagy/proteasome systems, oxidative damage, and sarcoplasmic reticulum Ca handling. RESULTS: We found a significant group effect for total adenosine monophosphate-(AMP)-activated protein kinase (tAMPK) and ratio of phosphorylated (pAMPK)/tAMPK (P = 0.012 and 0.033), with higher mean values in p.R50X/p.R50X mice versus the other two groups. The absence of a massive accumulation of ubiquitinated proteins, autophagosomes, or lysosomes in p.R50X/p.R50X mice suggested no major alterations in autophagy/proteasome systems. Citrate synthase activity was lower in p.R50X/p.R50X mice versus the other two groups (P = 0.036), but no statistical effect existed for respiratory chain complexes. We found higher levels of 4-hydroxy-2-nonenal-modified proteins in p.R50X/p.R50X and p.R50X/wt mice compared with the wt/wt group (P = 0.011). Sarco(endo)plasmic reticulum ATPase 1 levels detected at 110 kDa tended to be higher in p.R50X/p.R50X and p.R50X/wt mice compared with wt/wt animals (P = 0.076), but their enzyme activity was normal. We also found an accumulation of phosphorylated sarco(endo)plasmic reticulum ATPase 1 in p.R50X/p.R50X animals. CONCLUSION: Myophosphorylase deficiency causes alterations in sensory energetic pathways together with some evidence of oxidative damage and alterations in Ca handling but with no major alterations in oxidative phosphorylation capacity or autophagy/ubiquitination pathways, which suggests that the muscle tissue of patients is likely to adapt overall favorably to exercise training interventions.
[Mh] Termos MeSH primário: Tolerância ao Exercício
Doença de Depósito de Glicogênio Tipo V/fisiopatologia
Músculo Esquelético/fisiopatologia
Transdução de Sinais
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Técnicas de Introdução de Genes
Masculino
Camundongos
Camundongos da Linhagem 129
Camundongos Endogâmicos C57BL
Fosforilação Oxidativa
Estresse Oxidativo
ATPases Transportadoras de Cálcio do Retículo Sarcoplasmático/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Atp2a1 protein, mouse); EC 3.6.3.8 (Sarcoplasmic Reticulum Calcium-Transporting ATPases)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170925
[Lr] Data última revisão:
170925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160401
[St] Status:MEDLINE
[do] DOI:10.1249/MSS.0000000000000931


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[PMID]:27030740
[Au] Autor:Krag TO; Pinós T; Nielsen TL; Brull A; Andreu AL; Vissing J
[Ad] Endereço:From the Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark (TOK, TLN, JV); and Mitochondrial Pathology and Neuromuscular Disorders Laboratory, Vall d'Hebron Research Institute, Barcelona, Spain and Centro de Investigación Biomédic
[Ti] Título:Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease.
[So] Source:J Neuropathol Exp Neurol;75(5):441-54, 2016 May.
[Is] ISSN:1554-6578
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:McArdle disease (muscle glycogenosis type V) is caused by myophosphorylase deficiency, which leads to impaired glycogen breakdown. We investigated how myophosphorylase deficiency affects muscle physiology, morphology, and glucose metabolism in 20-week-old McArdle mice and compared the findings to those in McArdle disease patients. Muscle contractions in the McArdle mice were affected by structural degeneration due to glycogen accumulation, and glycolytic muscles fatigued prematurely, as occurs in the muscles of McArdle disease patients. Homozygous McArdle mice showed muscle fiber disarray, variations in fiber size, vacuoles, and some internal nuclei associated with cytosolic glycogen accumulation and ongoing regeneration; structural damage was seen only in a minority of human patients. Neither liver nor brain isoforms of glycogen phosphorylase were upregulated in muscles, thus providing no substitution for the missing muscle isoform. In the mice, the tibialis anterior (TA) muscles were invariably more damaged than the quadriceps muscles. This may relate to a 7-fold higher level of myophosphorylase in TA compared to quadriceps in wild-type mice and suggests higher glucose turnover in the TA. Thus, despite differences, the mouse model of McArdle disease shares fundamental physiological and clinical features with the human disease and could be used for studies of pathogenesis and development of therapies.
[Mh] Termos MeSH primário: Doença de Depósito de Glicogênio Tipo V/metabolismo
Doença de Depósito de Glicogênio Tipo V/patologia
Músculo Esquelético/metabolismo
Músculo Esquelético/patologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Animais
Feminino
Seres Humanos
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Transgênicos
Meia-Idade
Especificidade da Espécie
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1608
[Cu] Atualização por classe:160609
[Lr] Data última revisão:
160609
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160401
[St] Status:MEDLINE
[do] DOI:10.1093/jnen/nlw018


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[PMID]:26913921
[Au] Autor:Garcia-Consuegra I; Blázquez A; Rubio JC; Arenas J; Ballester-Lopez A; González-Quintana A; Andreu AL; Pinós T; Coll-Cantí J; Lucia A; Nogales-Gadea G; Martín MA
[Ad] Endereço:Laboratorio de Enfermedades Mitocondriales y Neuromusculares, Hospital 12 de Octubre, Madrid, Spain.
[Ti] Título:Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.
[So] Source:Genet Med;18(11):1128-1135, 2016 Nov.
[Is] ISSN:1530-0366
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: McArdle disease is a metabolic disorder caused by pathogenic mutations in the PYGM gene. Timely diagnosis can sometimes be difficult with direct genomic analysis, which requires additional studies of cDNA from muscle transcripts. Although the "nonsense-mediated mRNA decay" (NMD) eliminates tissue-specific aberrant transcripts, there is some residual transcription of tissue-specific genes in virtually all cells, such as peripheral blood mononuclear cells (PBMCs). METHODS: We studied a subset of the main types of PYGM mutations (deletions, missense, nonsense, silent, or splicing mutations) in cDNA from easily accessible cells (PBMCs) in 12 McArdle patients. RESULTS: Analysis of cDNA from PBMCs allowed detection of all mutations. Importantly, the effects of mutations with unknown pathogenicity (silent and splicing mutations) were characterized in PBMCs. Because the NMD mechanism does not seem to operate in nonspecific cells, PBMCs were more suitable than muscle biopsies for detecting the pathogenicity of some PYGM mutations, notably the silent mutation c.645G>A (p.K215=), whose effect in the splicing of intron 6 was unnoticed in previous muscle transcriptomic studies. CONCLUSION: We propose considering the use of PBMCs for detecting mutations that are thought to cause McArdle disease, particularly for studying their actual pathogenicity.Genet Med 18 11, 1128-1135.
[Mh] Termos MeSH primário: Glicogênio Fosforilase Muscular/sangue
Doença de Depósito de Glicogênio Tipo V/sangue
Doença de Depósito de Glicogênio Tipo V/genética
Patologia Molecular/métodos
[Mh] Termos MeSH secundário: Adolescente
Adulto
Códon sem Sentido/genética
Feminino
Glicogênio Fosforilase Muscular/genética
Doença de Depósito de Glicogênio Tipo V/patologia
Seres Humanos
Leucócitos Mononucleares
Masculino
Meia-Idade
Processamento de RNA/genética
Deleção de Sequência/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Nonsense); EC 2.4.1.- (Glycogen Phosphorylase, Muscle Form)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170915
[Lr] Data última revisão:
170915
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160226
[St] Status:MEDLINE
[do] DOI:10.1038/gim.2015.219


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[PMID]:26559449
[Au] Autor:Nogales-Gadea G; Santalla A; Ballester-Lopez A; Arenas J; Martín MA; Godfrey R; Pinós T; Pintos-Morell G; Coll-Cantí J; Lucia A
[Ad] Endereço:1Translational Research Laboratoy in Neuromuscular Diseases, Neurosciences Department, Germans Trias i Pujol Research Institute and Campus Can Ruti, Autonomous University of Barcelona, Badalona, SPAIN; 2Sports Sciences and Computing Department, Pablo de Olavide University, Sevilla, SPAIN; 312 de Octubre Hospital Research Institute (i + 12), Madrid, SPAIN; 4Mitochondrial and Neuromuscular Diseases Laboratory, 12 de Octubre Hospital, Madrid, SPAIN; 5Centre for Biomedical Network Research on Rare Diseases (CIBERER), Carlos III Health Institute, Madrid, SPAIN; 6Centre for Sports Medicine and Human Performance, Brunel University, London, UNITED KINGDOM; 7Neuromuscular and Mitochondrial Pathology Department, Vall d'Hebron University Hospital, Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, SPAIN; 8Rare Diseases Unit, Pediatric Service, Germans Trias i Pujol University Hospital, Badalona, Barcelona, SPAIN; 9Neuromuscular Unit Neurology Service, Germans Trias i Pujol University Hospital, Badalona, Barcelona, SPAIN; and 10School of Research and Doctorate Studies, European University, Madrid, SPAIN.
[Ti] Título:Exercise and Preexercise Nutrition as Treatment for McArdle Disease.
[So] Source:Med Sci Sports Exerc;48(4):673-9, 2016 Apr.
[Is] ISSN:1530-0315
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:McArdle disease is due to an inborn defect in the muscle isoform of glycogen phosphorylase (or "myophosphorylase"), the enzyme that catalyzes the first step of glycogenolysis. This condition is still not fully understood, and although advances in research would help patients immeasurably, these would also enhance our understanding of exercise metabolism. It has been 10 yr since the first published report demonstrating the benefits of regular aerobic exercise for these patients. However, misconceptions remain and the value of exercise prescription for patients with McArdle disease is still overlooked. Here, we review the role of exercise in McArdle disease with the aim to better inform health-care professionals and thus better serve the interests of patients. Recommendations for regular exercise together with preexercise nutrition in children and adult patients are also provided along with examples of exercise practice and its benefits.
[Mh] Termos MeSH primário: Terapia por Exercício
Doença de Depósito de Glicogênio Tipo V/terapia
Fenômenos Fisiológicos da Nutrição
[Mh] Termos MeSH secundário: Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Em] Mês de entrada:1612
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151113
[St] Status:MEDLINE
[do] DOI:10.1249/MSS.0000000000000812


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[PMID]:26465709
[Au] Autor:Nogales-Gadea G; Godfrey R; Santalla A; Coll-Cantí J; Pintos-Morell G; Pinós T; Arenas J; Martín MA; Lucia A
[Ad] Endereço:Translational Research Laboratory in Neuromuscular Diseases, Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol i Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Spain; gnogalga7@gmail.com.
[Ti] Título:Genes and exercise intolerance: insights from McArdle disease.
[So] Source:Physiol Genomics;48(2):93-100, 2016 Feb.
[Is] ISSN:1531-2267
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:McArdle disease (glycogen storage disease type V) is caused by inherited deficiency of a key enzyme in muscle metabolism, the skeletal muscle-specific isoform of glycogen phosphorylase, "myophosphorylase," which is encoded by the PYGM gene. Here we review the main pathophysiological, genotypic, and phenotypic features of McArdle disease and their interactions. To date, moderate-intensity exercise (together with pre-exercise carbohydrate ingestion) is the only treatment option that has proven useful for these patients. Furthermore, regular physical activity attenuates the clinical severity of McArdle disease. This is quite remarkable for a monogenic disorder that consistently leads to the same metabolic defect at the muscle tissue level, that is, complete inability to use muscle glycogen stores. Further knowledge of this disorder would help patients and enhance understanding of exercise metabolism as well as exercise genomics. Indeed, McArdle disease is a paradigm of human exercise intolerance and PYGM genotyping should be included in the genetic analyses that might be applied in the coming personalized exercise medicine as well as in future research on genetics and exercise-related phenotypes.
[Mh] Termos MeSH primário: Tolerância ao Exercício/genética
Exercício
Doença de Depósito de Glicogênio Tipo V/genética
Doença de Depósito de Glicogênio Tipo V/fisiopatologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Biópsia
Feminino
Genótipo
Glicogênio/metabolismo
Glicogênio Fosforilase Muscular/deficiência
Glicogênio Fosforilase Muscular/genética
Doença de Depósito de Glicogênio Tipo V/diagnóstico
Seres Humanos
Masculino
Meia-Idade
Músculo Esquelético/metabolismo
Músculos/metabolismo
Mutação
Fenótipo
Sistema de Registros
Espanha
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
9005-79-2 (Glycogen); EC 2.4.1.- (Glycogen Phosphorylase, Muscle Form)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151015
[St] Status:MEDLINE
[do] DOI:10.1152/physiolgenomics.00076.2015



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