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[PMID]:29360879
[Au] Autor:Henriques SF; Patissier C; Bourg N; Fecchio C; Sandona D; Marsolier J; Richard I
[Ad] Endereço:INTEGRARE, Genethon, Inserm, Univ Evry, Université Paris-Saclay, Evry, France.
[Ti] Título:Different outcome of sarcoglycan missense mutation between human and mouse.
[So] Source:PLoS One;13(1):e0191274, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Sarcoglycanopathies are rare autosomic limb girdle muscular dystrophies caused by mutations in one of the genes coding for sarcoglycan (α, ß, δ, and γ-sarcoglycans). Sarcoglycans form a complex, which is an important part of the dystrophin-associated glycoprotein complex that protects sarcolemma against muscle contraction-induced damages. Absence of one of the sarcoglycan at the plasma membrane induces the disappearance of the whole complex and perturbs muscle fiber membrane integrity. We previously demonstrated that point mutations in the human sarcoglycan genes affects the folding of the corresponding protein, which is then retained in the endoplasmic reticulum by the protein quality control and prematurely degraded by the proteasome. Interestingly, modulation of the quality control using pharmacological compounds allowed the rescue of the membrane localization of the mutated sarcoglycan. Two previously generated mouse models, knock-in for the most common sarcoglycan mutant, R77C α-sarcoglycan, failed in reproducing the dystrophic phenotype observed in human patients. Based on these results and the need to test therapies for these fatal diseases, we decided to generate a new knock-in mouse model carrying the missense mutation T151R in the ß-sarcoglycan gene since this is the second sarcoglycan protein with the most frequently reported missense mutations. Muscle analysis, performed at the age of 4 and 9-months, showed the presence of the mutated ß-sarcoglycan protein and of the other components of the dystrophin-associated glycoprotein complex at the muscle membrane. In addition, these mice did not develop a dystrophic phenotype, even at a late stage or in condition of stress-inducing exercise. We can speculate that the absence of phenotype in mouse may be due to a higher tolerance of the endoplasmic reticulum quality control for amino-acid changes in mice compared to human.
[Mh] Termos MeSH primário: Distrofia Muscular do Cíngulo dos Membros/genética
Mutação de Sentido Incorreto
Sarcoglicanas/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Substituição de Aminoácidos
Animais
Modelos Animais de Doenças
Feminino
Seres Humanos
Masculino
Camundongos
Camundongos da Linhagem 129
Camundongos Endogâmicos C57BL
Camundongos Transgênicos
Músculo Esquelético/metabolismo
Músculo Esquelético/patologia
Distrofia Muscular do Cíngulo dos Membros/metabolismo
Distrofia Muscular do Cíngulo dos Membros/patologia
Proteólise
Sarcoglicanas/metabolismo
Especificidade da Espécie
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (SGCB protein, human); 0 (Sarcoglycans)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180124
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0191274


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[PMID]:28869676
[Au] Autor:Weissbach A; Werner E; Bally JF; Tunc S; Löns S; Timmann D; Zeuner KE; Tadic V; Brüggemann N; Lang A; Klein C; Münchau A; Bäumer T
[Ad] Endereço:Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
[Ti] Título:Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation.
[So] Source:Ann Neurol;82(4):543-553, 2017 Oct.
[Is] ISSN:1531-8249
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To characterize neurophysiological subcortical abnormalities in myoclonus-dystonia and their modulation by alcohol administration. METHODS: Cerebellar associative learning and basal ganglia-brainstem interaction were investigated in 17 myoclonus-dystonia patients with epsilon-sarcoglycan (SGCE) gene mutation and 21 age- and sex-matched healthy controls by means of classical eyeblink conditioning and blink reflex recovery cycle before and after alcohol intake resulting in a breath alcohol concentration of 0.08% (0.8g/l). The alcohol responsiveness of clinical symptoms was evaluated by 3 blinded raters with a standardized video protocol and clinical rating scales including the Unified Myoclonus Rating Scale and the Burke-Fahn-Marsden Dystonia Rating Scale. RESULTS: Patients showed a significantly reduced number of conditioned eyeblink responses before alcohol administration compared to controls. Whereas the conditioning response rate decreased under alcohol intake in controls, it increased in patients (analysis of variance: alcohol state × group, p = 0.004). Blink reflex recovery cycle before and after alcohol intake did not differ between groups. Myoclonus improved significantly after alcohol intake (p = 0.016). The severity of action myoclonus at baseline correlated negatively with the conditioning response in classical eyeblink conditioning in patients. INTERPRETATION: The combination of findings of reduced baseline acquisition of conditioned eyeblink responses and normal blink reflex recovery cycle in patients who improved significantly with alcohol intake suggests a crucial role of cerebellar networks in the generation of symptoms in these patients. Ann Neurol 2017;82:543-553.
[Mh] Termos MeSH primário: Piscadela/efeitos dos fármacos
Distúrbios Distônicos/complicações
Etanol/administração & dosagem
Etanol/farmacologia
Transtornos de Aprendizagem/tratamento farmacológico
Transtornos de Aprendizagem/etiologia
[Mh] Termos MeSH secundário: Administração por Inalação
Adolescente
Adulto
Estudos de Casos e Controles
Depressores do Sistema Nervoso Central/administração & dosagem
Depressores do Sistema Nervoso Central/farmacologia
Condicionamento Clássico/efeitos dos fármacos
Distúrbios Distônicos/genética
Eletromiografia
Feminino
Seres Humanos
Masculino
Meia-Idade
Mutação/genética
Sarcoglicanas/genética
Índice de Gravidade de Doença
Gravação em Vídeo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Central Nervous System Depressants); 0 (SGCE protein, human); 0 (Sarcoglycans); 3K9958V90M (Ethanol)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170905
[St] Status:MEDLINE
[do] DOI:10.1002/ana.25035


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[PMID]:28821434
[Au] Autor:Fukai Y; Ohsawa Y; Ohtsubo H; Nishimatsu SI; Hagiwara H; Noda M; Sasaoka T; Murakami T; Sunada Y
[Ad] Endereço:Department of Neurology, Kawasaki Medical School, 577 Matsushima, Kurashiki, Okayama 701-0192, Japan.
[Ti] Título:Cleavage of ß-dystroglycan occurs in sarcoglycan-deficient skeletal muscle without MMP-2 and MMP-9.
[So] Source:Biochem Biophys Res Commun;492(2):199-205, 2017 Oct 14.
[Is] ISSN:1090-2104
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The dystroglycan complex consists of two subunits: extracellular α-dystroglycan and membrane-spanning ß-dystroglycan, which provide a tight link between the extracellular matrix and the intracellular cytoskeleton. Previous studies showed that 43 kDa ß-dystroglycan is proteolytically cleaved into the 30 kDa fragment by matrix metalloproteinases (MMPs) in various non-muscle tissues, whereas it is protected from cleavage in muscles by the sarcoglycan complex which resides close to the dystroglycan complex. It is noteworthy that cleaved ß-dystroglycan is detected in muscles from patients with sarcoglycanopathy, sarcoglycan-deficient muscular dystrophy. In vitro assays using protease inhibitors suggest that both MMP-2 and MMP-9 contribute to the cleavage of ß-dystroglycan. However, this has remained uninvestigated in vivo. METHODS: We generated triple-knockout (TKO) mice targeting MMP-2, MMP-9 and γ-sarcoglycan to examine the status of ß-dystroglycan cleavage in the absence of the candidate matrix metalloproteinases in sarcoglycan-deficient muscles. RESULTS: Unexpectedly, ß-dystroglycan was cleaved in muscles from TKO mice. Muscle pathology was not ameliorated but worsened in TKO mice compared with γ-sarcoglycan single-knockout mice. The gene expression of MMP-14 was up-regulated in TKO mice as well as in γ-sarcoglycan knockout mice. In vitro assay showed MMP-14 is capable to cleave ß-dystroglycan. CONCLUSIONS: Double-targeting of MMP-2 and MMP-9 cannot prevent cleavage of ß-dystroglycan in sarcoglycanopathy. Thus, matrix metalloproteinases contributing to ß-dystroglycan cleavage are redundant, and MMP-14 could participate in the pathogenesis of sarcoglycanopathy.
[Mh] Termos MeSH primário: Distroglicanas/metabolismo
Metaloproteinase 2 da Matriz/genética
Metaloproteinase 9 da Matriz/genética
Músculo Esquelético/metabolismo
Sarcoglicanopatias/genética
Sarcoglicanas/genética
[Mh] Termos MeSH secundário: Animais
Deleção de Genes
Seres Humanos
Metaloproteinase 14 da Matriz/genética
Metaloproteinase 14 da Matriz/metabolismo
Metaloproteinase 2 da Matriz/metabolismo
Metaloproteinase 9 da Matriz/metabolismo
Camundongos Knockout
Músculo Esquelético/patologia
Proteólise
Sarcoglicanopatias/metabolismo
Sarcoglicanopatias/patologia
Sarcoglicanas/metabolismo
Regulação para Cima
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Sarcoglycans); 146888-27-9 (Dystroglycans); EC 3.4.24.24 (Matrix Metalloproteinase 2); EC 3.4.24.35 (Matrix Metalloproteinase 9); EC 3.4.24.80 (Matrix Metalloproteinase 14)
[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:170820
[St] Status:MEDLINE


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[PMID]:28768281
[Au] Autor:Murugesan V; Degerman E; Holmen-Pålbrink AK; Duner P; Knutsson A; Hultgårdh-Nilsson A; Rauch U
[Ad] Endereço:Department of Experimental Medical Science, Lund University, Lund, Sweden.
[Ti] Título:ß-Sarcoglycan Deficiency Reduces Atherosclerotic Plaque Development in ApoE-Null Mice.
[So] Source:J Vasc Res;54(4):235-245, 2017.
[Is] ISSN:1423-0135
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Smooth muscle cells are important for atherosclerotic plaque stability. Their proper ability to communicate with the extracellular matrix is crucial for maintaining the correct tissue integrity. In this study, we have investigated the role of ß-sarcoglycan within the matrix-binding dystrophin-glycoprotein complex in the development of atherosclerosis. RESULTS: Atherosclerotic plaque development was significantly reduced in ApoE-deficient mice lacking ß-sarcoglycan, and their plaques contained an increase in differentiated smooth muscle cells. ApoE-deficient mice lacking ß-sarcoglycan showed a reduction in ovarian adipose tissue and adipocyte size, while the total weight of the animals was not significantly different. Western blot analysis of adipose tissues showed a decreased activation of protein kinase B, while that of AMP-activated kinase was increased in mice lacking ß-sarcoglycan. Analysis of plasma in ß-sarcoglycan-deficient mice revealed reduced levels of leptin, adiponectin, insulin, cholesterol, and triglycerides but increased levels of IL-6, IL-17, and TNF-α. CONCLUSIONS: Our results indicate that the dystrophin-glycoprotein complex and ß-sarcoglycan can affect the atherosclerotic process. Furthermore, the results show the effects of ß-sarcoglycan deficiency on adipose tissue and lipid metabolism, which may also have contributed to the atherosclerotic plaque reduction.
[Mh] Termos MeSH primário: Doenças da Aorta/prevenção & controle
Apolipoproteínas E/deficiência
Aterosclerose/prevenção & controle
Músculo Liso Vascular/metabolismo
Miócitos de Músculo Liso/metabolismo
Placa Aterosclerótica
Sarcoglicanas/deficiência
[Mh] Termos MeSH secundário: Proteínas Quinases Ativadas por AMP/metabolismo
Adipócitos/metabolismo
Adipócitos/patologia
Adipocinas/metabolismo
Tecido Adiposo/metabolismo
Tecido Adiposo/patologia
Animais
Aorta Torácica/metabolismo
Aorta Torácica/patologia
Doenças da Aorta/genética
Doenças da Aorta/metabolismo
Doenças da Aorta/patologia
Apolipoproteínas E/genética
Aterosclerose/genética
Aterosclerose/metabolismo
Aterosclerose/patologia
Citocinas/metabolismo
Modelos Animais de Doenças
Progressão da Doença
Complexo de Proteínas Associadas Distrofina/metabolismo
Feminino
Predisposição Genética para Doença
Camundongos Endogâmicos C57BL
Camundongos Knockout
Músculo Liso Vascular/patologia
Miócitos de Músculo Liso/patologia
Fenótipo
Proteínas Proto-Oncogênicas c-akt/metabolismo
Sarcoglicanas/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Adipokines); 0 (Apolipoproteins E); 0 (Cytokines); 0 (Dystrophin-Associated Protein Complex); 0 (Sarcoglycans); EC 2.7.11.1 (Proto-Oncogene Proteins c-akt); EC 2.7.11.31 (AMP-Activated Protein Kinases)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170803
[St] Status:MEDLINE
[do] DOI:10.1159/000478014


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[PMID]:28284983
[Au] Autor:Pozsgai ER; Griffin DA; Heller KN; Mendell JR; Rodino-Klapac LR
[Ad] Endereço:Biomedical Sciences Graduate Program, The Ohio State University, Columbus, OH 43210, USA; Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH 43205, USA.
[Ti] Título:Systemic AAV-Mediated ß-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice.
[So] Source:Mol Ther;25(4):855-869, 2017 Apr 05.
[Is] ISSN:1525-0024
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Limb-girdle muscular dystrophy type 2E (LGMD2E), resulting from mutations in ß-sarcoglycan (SGCB), is a progressive dystrophy with deteriorating muscle function, respiratory failure, and cardiomyopathy in 50% or more of LGMD2E patients. SGCB knockout mice share many of the phenotypic deficiencies of LGMD2E patients. To investigate systemic SGCB gene transfer to treat skeletal and cardiac muscle deficits, we designed a self-complementary AAVrh74 vector containing a codon-optimized human SGCB transgene driven by a muscle-specific promoter. We delivered scAAV.MHCK7.hSGCB through the tail vein of SGCB mice to provide a rationale for a clinical trial that would lead to clinically meaningful results. This led to 98.1% transgene expression across all muscles that was accompanied by improvements in histopathology. Serum creatine kinase (CK) levels were reduced following treatment by 85.5%. Diaphragm force production increased by 94.4%, kyphoscoliosis of the spine was significantly reduced by 48.1%, overall ambulation increased by 57%, and vertical rearing increased dramatically by 132% following treatment. Importantly, no adverse effects were seen in muscle of wild-type mice injected systemically with scAAV.hSGCB. In this well-defined model of LGMD2E, we have demonstrated the efficacy and safety of systemic scAAV.hSGCB delivery, and these findings have established a path for clinically beneficial AAV-mediated gene therapy for LGMD2E.
[Mh] Termos MeSH primário: Dependovirus/genética
Vetores Genéticos/genética
Músculo Esquelético/metabolismo
Miocárdio/metabolismo
Sarcoglicanopatias/diagnóstico
Sarcoglicanopatias/genética
Sarcoglicanas/genética
[Mh] Termos MeSH secundário: Animais
Biópsia
Cardiomiopatias/diagnóstico
Cardiomiopatias/genética
Modelos Animais de Doenças
Ordem dos Genes
Técnicas de Transferência de Genes
Vetores Genéticos/administração & dosagem
Vetores Genéticos/farmacocinética
Seres Humanos
Cifose/diagnóstico
Cifose/genética
Cifose/terapia
Camundongos
Camundongos Knockout
Atividade Motora
Músculo Esquelético/patologia
Músculo Esquelético/fisiopatologia
Miocárdio/patologia
Recuperação de Função Fisiológica
Sarcoglicanopatias/terapia
Escoliose/diagnóstico
Escoliose/genética
Escoliose/terapia
Distribuição Tecidual
Transdução Genética
Microtomografia por Raio-X
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (SGCB protein, human); 0 (Sarcoglycans)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170606
[Lr] Data última revisão:
170606
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170313
[St] Status:MEDLINE


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[PMID]:28219397
[Au] Autor:Suriyonplengsaeng C; Dejthevaporn C; Khongkhatithum C; Sanpapant S; Tubthong N; Pinpradap K; Srinark N; Waisayarat J
[Ad] Endereço:Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.
[Ti] Título:Immunohistochemistry of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded skeletal muscle tissue: a promising tool for the diagnostic evaluation of common muscular dystrophies.
[So] Source:Diagn Pathol;12(1):19, 2017 Feb 20.
[Is] ISSN:1746-1596
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The analysis of fresh frozen muscle specimens is standard following routine muscle biopsy, but this service is not widely available in countries with limited medical facilities, such as Thailand. Nevertheless, immunohistochemistry (IHC) analysis is essential for the diagnosis of patients with a strong clinical suspicion of muscular dystrophy, in the absence of mutations detected by molecular genetics. As the successful labelling of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded (FFPE) muscle sections using IHC staining has rarely been described, this study aimed to develop a reproducible IHC method for such an analysis. METHODS: Thirteen cases were studied from the files of the Department of Pathology, Mahidol University. Diagnoses included three Duchenne muscular dystrophy (DMD), one Becker muscular dystrophy (BMD), one dysferlinopathy, and several not-specified muscular dystrophies. IHC was performed on FFPE sections at different thicknesses (3 µm, 5 µm, and 8 µm) using the heat-mediated antigen retrieval method with citrate/EDTA buffer, followed by an overnight incubation with primary antibodies at room temperature. Antibodies against spectrin, dystrophin (rod domain, C-terminus, and N-terminus), dysferlin, sarcoglycans (α, ß, and γ), and ß-dystroglycan were used. Frozen sections were tested in parallel for comparative analysis. RESULTS: Antibodies labelling spectrin, dystrophin (rod domain and C-terminus), dysferlin, sarcoglycans (α, ß, and γ), and ß-dystroglycan clearly exhibited sarcolemmal staining in FFPE sections. However, staining of FFPE sections using the antibody directed against the N-terminus of dystrophin was unsuccessful. The absence of labeling for dystrophins and dysferlin in FFPE sections was documented in all three DMD patients and the dysferlinopathy patient. The BMD diagnosis could not be made using IHC in FFPE sections alone because of a lack of staining for the dystrophin N-terminus, indicating a limitation of this method. CONCLUSIONS: We developed a reliable and reproducible IHC technique using FFPE muscle. This could become a valuable tool for the diagnosis of some muscular dystrophies, dystrophinopathies, sarcoglycanopathies (LGMD2D, LGMD2E, and LGMD2C), and dysferlinopathy, especially in situations where the analysis of fresh frozen muscle samples is not routinely available.
[Mh] Termos MeSH primário: Distroglicanas/metabolismo
Distrofina/metabolismo
Proteínas de Membrana/metabolismo
Proteínas Musculares/metabolismo
Distrofia Muscular do Cíngulo dos Membros/diagnóstico
Distrofias Musculares/diagnóstico
Sarcoglicanas/metabolismo
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Disferlina
Feminino
Seres Humanos
Imuno-Histoquímica
Lactente
Masculino
Meia-Idade
Músculo Esquelético/metabolismo
Músculo Esquelético/patologia
Distrofias Musculares/metabolismo
Distrofia Muscular do Cíngulo dos Membros/metabolismo
Distrofia Muscular de Duchenne/diagnóstico
Distrofia Muscular de Duchenne/metabolismo
Inclusão em Parafina
Reprodutibilidade dos Testes
Sarcoglicanopatias/diagnóstico
Sarcoglicanopatias/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DAG1 protein, human); 0 (DYSF protein, human); 0 (Dysferlin); 0 (Dystrophin); 0 (Membrane Proteins); 0 (Muscle Proteins); 0 (Sarcoglycans); 146888-27-9 (Dystroglycans)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170222
[St] Status:MEDLINE
[do] DOI:10.1186/s13000-017-0610-y


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[PMID]:28081371
[Au] Autor:Sanders AE; Jain D; Sofer T; Kerr KF; Laurie CC; Shaffer JR; Marazita ML; Kaste LM; Slade GD; Fillingim RB; Ohrbach R; Maixner W; Kocher T; Bernhardt O; Teumer A; Schwahn C; Sipilä K; Lähdesmäki R; Männikkö M; Pesonen P; Järvelin M; Rizzatti-Barbosa CM; Meloto CB; Ribeiro-Dasilva M; Diatchenko L; Serrano P; Smith SB
[Ad] Endereço:1 Department of Dental Ecology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
[Ti] Título:GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos.
[So] Source:J Dent Res;96(3):277-284, 2017 03.
[Is] ISSN:1544-0591
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Temporomandibular disorder (TMD) is a musculoskeletal condition characterized by pain and reduced function in the temporomandibular joint and/or associated masticatory musculature. Prevalence in the United States is 5% and twice as high among women as men. We conducted a discovery genome-wide association study (GWAS) of TMD in 10,153 participants (769 cases, 9,384 controls) of the US Hispanic Community Health Study/Study of Latinos (HCHS/SOL). The most promising single-nucleotide polymorphisms (SNPs) were tested in meta-analysis of 4 independent cohorts. One replication cohort was from the United States, and the others were from Germany, Finland, and Brazil, totaling 1,911 TMD cases and 6,903 controls. A locus near the sarcoglycan alpha ( SGCA), rs4794106, was suggestive in the discovery analysis ( P = 2.6 × 10 ) and replicated (i.e., 1-tailed P = 0.016) in the Brazilian cohort. In the discovery cohort, sex-stratified analysis identified 2 additional genome-wide significant loci in females. One lying upstream of the relaxin/insulin-like family peptide receptor 2 ( RXP2) (chromosome 13, rs60249166, odds ratio [OR] = 0.65, P = 3.6 × 10 ) was replicated among females in the meta-analysis (1-tailed P = 0.052). The other (chromosome 17, rs1531554, OR = 0.68, P = 2.9 × 10 ) was replicated among females (1-tailed P = 0.002), as well as replicated in meta-analysis of both sexes (1-tailed P = 0.021). A novel locus at genome-wide level of significance (rs73460075, OR = 0.56, P = 3.8 × 10 ) in the intron of the dystrophin gene DMD (X chromosome), and a suggestive locus on chromosome 7 (rs73271865, P = 2.9 × 10 ) upstream of the Sp4 Transcription Factor ( SP4) gene were identified in the discovery cohort, but neither of these was replicated. The SGCA gene encodes SGCA, which is involved in the cellular structure of muscle fibers and, along with DMD, forms part of the dystrophin-glycoprotein complex. Functional annotation suggested that several of these variants reside in loci that regulate processes relevant to TMD pathobiologic processes.
[Mh] Termos MeSH primário: Estudo de Associação Genômica Ampla
Polimorfismo de Nucleotídeo Único
Transtornos da Articulação Temporomandibular/genética
[Mh] Termos MeSH secundário: Brasil/epidemiologia
Estudos de Casos e Controles
Distrofina
Feminino
Finlândia/epidemiologia
Loci Gênicos
Predisposição Genética para Doença
Genótipo
Alemanha/epidemiologia
Hispano-Americanos
Seres Humanos
Masculino
Fenótipo
Prevalência
Receptores Acoplados a Proteínas-G
Sarcoglicanas
Fator de Transcrição Sp4
Inquéritos e Questionários
Transtornos da Articulação Temporomandibular/epidemiologia
Transtornos da Articulação Temporomandibular/etnologia
Estados Unidos/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; MULTICENTER STUDY
[Nm] Nome de substância:
0 (DMD protein, human); 0 (Dystrophin); 0 (RXFP2 protein, human); 0 (Receptors, G-Protein-Coupled); 0 (SGCA protein, human); 0 (SP4 protein, human); 0 (Sarcoglycans); 0 (Sp4 Transcription Factor)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170607
[Lr] Data última revisão:
170607
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:170113
[St] Status:MEDLINE
[do] DOI:10.1177/0022034516686562


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[PMID]:27836895
[Au] Autor:Ballmann C; Denney TS; Beyers RJ; Quindry T; Romero M; Amin R; Selsby JT; Quindry JC
[Ad] Endereço:School of Kinesiology, Auburn University, Auburn, Alabama.
[Ti] Título:Lifelong quercetin enrichment and cardioprotection in Mdx/Utrn+/- mice.
[So] Source:Am J Physiol Heart Circ Physiol;312(1):H128-H140, 2017 Jan 01.
[Is] ISSN:1522-1539
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Duchenne Muscular Dystrophy (DMD) is associated with progressive cardiac pathology; however, the SIRT1/PGC1-α activator quercetin may cardioprotect dystrophic hearts. We tested the extent to which long-term 0.2% dietary quercetin enrichment attenuates dystrophic cardiopathology in Mdx/Utrn mice. At 2 mo, Mdx/Utrn mice were fed quercetin-enriched (Mdx/Utrn -Q) or control diet (Mdx/Utrn ) for 8 mo. Control C57BL/10 (C57) animals were fed a control diet for 10 mo. Cardiac function was quantified by MRI at 2 and 10 mo. Spontaneous physical activity was quantified during the last week of treatment. At 10 mo hearts were excised for histological and biochemical analysis. Quercetin feeding improved various physiological indexes of cardiac function in diseased animals. Mdx/Utrn -Q also engaged in more high-intensity physical activity than controls. Histological analyses of heart tissues revealed higher expression and colocalization of utrophin and α-sarcoglycan. Lower abundance of fibronectin, cardiac damage (Hematoxylin Eosin-Y), and MMP9 were observed in quercetin-fed vs. control Mdx/Utrn mice. Quercetin evoked higher protein abundance of PGC-1α, cytochrome c, ETC complexes I-V, citrate synthase, SOD2, and GPX compared with control-fed Mdx/Utrn Quercetin decreased abundance of inflammatory markers including NFκB, TGF-ß1, and F4/80 compared with Mdx/Utrn ; however, P-NFκB, P-IKBα, IKBα, CD64, and COX2 were similar between groups. Dietary quercetin enrichment improves cardiac function in aged Mdx/Utrn mice and increases mitochondrial protein content and dystrophin glycoprotein complex formation. Histological analyses indicate a marked attenuation in pathological cardiac remodeling and indicate that long-term quercetin consumption benefits the dystrophic heart. NEW & NOTEWORTHY: The current investigation provides first-time evidence that quercetin provides physiological cardioprotection against dystrophic pathology and is associated with improved spontaneous physical activity. Secondary findings suggest that quercetin-dependent outcomes are in part due to PGC-1α pathway activation.
[Mh] Termos MeSH primário: Antioxidantes/farmacologia
Coração/efeitos dos fármacos
Distrofia Muscular Animal/fisiopatologia
Quercetina/farmacologia
[Mh] Termos MeSH secundário: Animais
Antígenos de Diferenciação/efeitos dos fármacos
Antígenos de Diferenciação/metabolismo
Western Blotting
Citrato (si)-Sintase/efeitos dos fármacos
Citrato (si)-Sintase/metabolismo
Ciclo-Oxigenase 2/efeitos dos fármacos
Ciclo-Oxigenase 2/metabolismo
Citocromos c/efeitos dos fármacos
Citocromos c/metabolismo
Modelos Animais de Doenças
Complexo de Proteínas da Cadeia de Transporte de Elétrons/efeitos dos fármacos
Complexo de Proteínas da Cadeia de Transporte de Elétrons/metabolismo
Fibronectinas/metabolismo
Alimentos Fortificados
Coração/diagnóstico por imagem
Coração/fisiopatologia
Imagem por Ressonância Magnética
Metaloproteinase 9 da Matriz/metabolismo
Camundongos
Camundongos Endogâmicos mdx
Mitocôndrias Musculares/efeitos dos fármacos
Mitocôndrias Musculares/metabolismo
Atividade Motora
Distrofia Muscular Animal/metabolismo
Distrofia Muscular de Duchenne
Miocárdio/metabolismo
Miocárdio/patologia
Inibidor de NF-kappaB alfa/efeitos dos fármacos
Inibidor de NF-kappaB alfa/metabolismo
NF-kappa B/efeitos dos fármacos
NF-kappa B/metabolismo
Coativador 1-alfa do Receptor gama Ativado por Proliferador de Peroxissomo/efeitos dos fármacos
Coativador 1-alfa do Receptor gama Ativado por Proliferador de Peroxissomo/metabolismo
Fosforilação
Receptores de IgG/efeitos dos fármacos
Receptores de IgG/metabolismo
Sarcoglicanas/metabolismo
Superóxido Dismutase/efeitos dos fármacos
Superóxido Dismutase/metabolismo
Fator de Crescimento Transformador beta1/efeitos dos fármacos
Fator de Crescimento Transformador beta1/metabolismo
Utrofina/genética
Utrofina/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, Differentiation); 0 (Antioxidants); 0 (Electron Transport Chain Complex Proteins); 0 (Fibronectins); 0 (NF-kappa B); 0 (Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha); 0 (Ppargc1a protein, mouse); 0 (Receptors, IgG); 0 (Sarcoglycans); 0 (Tgfb1 protein, mouse); 0 (Transforming Growth Factor beta1); 0 (Utrn protein, mouse); 0 (Utrophin); 0 (monocyte-macrophage differentiation antigen); 139874-52-5 (NF-KappaB Inhibitor alpha); 9007-43-6 (Cytochromes c); 9IKM0I5T1E (Quercetin); EC 1.14.99.- (Ptgs2 protein, mouse); EC 1.14.99.1 (Cyclooxygenase 2); EC 1.15.1.1 (Superoxide Dismutase); EC 1.15.1.1 (superoxide dismutase 2); EC 2.3.3.1 (Citrate (si)-Synthase); EC 3.4.24.35 (Matrix Metalloproteinase 9); EC 3.4.24.35 (Mmp9 protein, mouse)
[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:161113
[St] Status:MEDLINE
[do] DOI:10.1152/ajpheart.00552.2016


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[PMID]:27759885
[Au] Autor:Dalichaouche I; Sifi Y; Roudaut C; Sifi K; Hamri A; Rouabah L; Abadi N; Richard I
[Ad] Endereço:Laboratory of Molecular and Cellular Biology, Faculty of Natural Sciences and Life, University 1 of Constantine, Algeria.
[Ti] Título:γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort.
[So] Source:Muscle Nerve;56(1):129-135, 2017 Jul.
[Is] ISSN:1097-4598
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: We report the genetic analysis of a large series of 76 Algerian patients from 65 unrelated families who presented with early onset severe muscular dystrophy and a clinical phenotype resembling limb-girdle muscular dystrophy type 2C. METHODS: To define the genetic basis of the diseases in these families, we undertook a series of analyses of the γ-sarcoglycan (SGCG) and DMD genes. RESULTS: Fifteen families were shown to carry SGCG variants. Only 2 kinds of causative mutations were identified in the population, mostly in the homozygous state: the well-known c.525delT and the previously described c.87dupT. In the DMD gene, 12 distinctive patterns of deletion were identified, mostly affecting the dystrophin central region. CONCLUSIONS: Our data suggest that a simple molecular screen consisting of 2 allele-specific polymerase chain reactions (PCRs) and a set of 3 multiplex PCRs can diagnose half of the patients who present with progressive muscular dystrophy in the developing nation of Algeria. Muscle Nerve 56: 129-135, 2017.
[Mh] Termos MeSH primário: Distrofina/genética
Distrofias Musculares/genética
Mutação/genética
Sarcoglicanopatias/genética
Sarcoglicanas/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Argélia
Criança
Pré-Escolar
Estudos de Coortes
Saúde da Família
Feminino
Testes Genéticos
Seres Humanos
Masculino
Estatísticas não Paramétricas
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Dystrophin); 0 (Sarcoglycans)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170818
[Lr] Data última revisão:
170818
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161021
[St] Status:MEDLINE
[do] DOI:10.1002/mus.25443


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[PMID]:27899160
[Au] Autor:Arena S; Iacona R; Impellizzeri P; Russo T; Marseglia L; Gitto E; Romeo C
[Ad] Endereço:Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi" - Unit of Paediatric Surgery, University of Messina, 98125, Messina, Italy. salarena@unime.it.
[Ti] Título:Physiopathology of vesico-ureteral reflux.
[So] Source:Ital J Pediatr;42(1):103, 2016 Nov 29.
[Is] ISSN:1824-7288
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Vescico-Ureteral Reflux (VUR) is a common condition in childhood, caused by a congenital anomaly at the Vescico-Ureteral Junction (VUJ) level. It seems that the main cause could be an abnormal embryological development occurred during the early stage of fetal life.Refluxing ureteral endings show structural and functional anomalies: previous studies have shown a significant decrease in alfa actin, miosin and desmin contents as well as an high rate of atrophy and muscular degeneration with disorganized muscular fibres. The roles played by Cajal cells and Connexin 43 in generating peristaltic waves appears to be fundamental for the physiological VUJ function and activity. Attention was focused also on the congenital muscular deficiency of the RUs, on regard to general morphology, smooth muscle cells architecture, inflammatory markers and the distribution of collagen composition.This review will discuss and investigate the importance of the modified configuration of Sarcoglycan (SG) sub complex (particularly the deficiency of the ε-SG and the increased expression of the α-SG), the role played by Cajal Cells, the intravescical tunnel length to ureteral diameter ratio as possible causes of the functional alterations in the refluxing ureteral ends leading towards the VUJ incompetence.
[Mh] Termos MeSH primário: Refluxo Vesicoureteral/fisiopatologia
[Mh] Termos MeSH secundário: Seres Humanos
Recém-Nascido
Fatores de Risco
Sarcoglicanas/metabolismo
Refluxo Vesicoureteral/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Sarcoglycans)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170620
[Lr] Data última revisão:
170620
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161201
[St] Status:MEDLINE



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