261 resultados para limb girdle muscular dystrophy 2A
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The nuclear poly(A)-binding protein 1 (PABPN1) is a ubiquitously expressed protein that plays a critical role in polyadenylation. Short expansions of the polyalanine tract in the N-terminus of PABPN1 lead to oculopharyngeal muscular dystrophy (OPMD), which is an adult onset disease characterized by eyelid drooping, difficulty in swallowing and weakness in the proximal limb muscles. Although significant data from in vitro biochemical assays define the function of PABPN1 in control of poly(A) tail length, little is known about the role of PABPN1 in mammalian cells. To assess the function of PABPN1 in mammalian cells and specifically in cells affected in OPMD, we examined the effects of PABPN1 depletion using siRNA in primary mouse myoblasts from extraocular, pharyngeal and limb muscles. PABPN1 knockdown significantly decreased cell proliferation and myoblast differentiation during myogenesis in vitro. At the molecular level, PABPN1 depletion in myoblasts led to a shortening of mRNA poly(A) tails, demonstrating the cellular function of PABPN1 in polyadenylation control in a mammalian cell. In addition, PABPN1 depletion caused nuclear accumulation of poly(A) RNA, revealing that PABPN1 is required for proper poly(A) RNA export from the nucleus. Together, these experiments demonstrate that PABPN1 plays an essential role in myoblast proliferation and differentiation, suggesting that it is required for muscle regeneration and maintenance in vivo.
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Pós-graduação em Medicina Veterinária - FCAV
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Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder characterized by the progressive loss of muscular strength. Mdx mutant mice show a marked deficiency in dystrophin, which was related to muscle membrane stability. The aim of this study was to verify the possible protective anti-inflammatory effect of citrus oil on mdx muscle fibers. Thus, adult male and female mdx mice (014/06-CEEA) were divided into control and citrus-treated. After 60 days of treatment, one ml of blood was collected for creatine kinase (CK) test. Diaphragm, sternomastoideus, anterior tibial and gastrocnemius muscles were removed and processed according to histological routine methods. The observed alterations indicate a direct effect of citrus. Recent studies have improved the diagnosis of muscular diseases but with no definitions of efficient treatments. Intervention with several therapies is important to many patients presenting muscular dystrophy, which enables them to live longer and be more active, while there is no development of gene therapies.
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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
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Muscular dystrophy refers to a group of more than 30 genetical disorders characterized by progressive weakness and degeneration of the skeletal muscle. No effective therapy is available at present. Recent studies have reported that the transplantation of stem cells can offer an important potential therapy for genetic diseases. Adult bone marrow mesenchymal stem cells have been identified as a nonhematopoietic stem cell population capable of self-renewal with the ability to differentiate into many cell lineages, including bone, fat, cartilage and connective tissue. Because of their similarity with muscle progenitor cells, when they are injected in affected individuals, they are able to migrate into areas of skeletal muscle degeneration and participate in the regeneration process. The adipose tissue represents an alternative source of MSCs that, as the MSCs derived from bone marrow, are capable of in vitro differentiation into osteogenic, adipogenic, myogenic and chondrogenic lineages. The objective of this project is to investigate the “in vitro” myogenic potential of mesenchymal stem cells derived from murine bone marrow and adipose tissue. Four experimental groups were analyzed: mice from lineages Lama2dy-2J/J and C57black and, C2C12 lineage cells and transformed C2C12 expressing the eGFP protein. MSCs cultures were obtained by flushing the bone marrow femurs and tibials with α-MEM or by the subcutaneous and inguinal fat from the mice. Their characterization was done by flow cytometry and in vitro differentiation. Muscle differentiation was studied through the analysis of the expression of transcriptional factors involved in muscle differentiation and/or the presence and amount of specific proteins from muscle differentiated cell. The pluripotency from bone marrow MSCs of the two lineages was evidenced and, in the muscular differentiation... (Complete abstract click electronic access below)
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Objective: To analyze the effect of arm bracing posture on respiratory muscle strength and pulmonary function in patients with Chronic Obstructive Pulmonary Disease (COPD).Methods: 20 patients with COPD (11 male; 67 +/- 8 years; BMI 24 +/- 3 Kg . m(-2)) were submitted to assessments of Maximal Inspiratory and Expiratory Pressures (MIP and MEP, respectively) and spirometry with and without arm bracing in a random order. The assessment with arm bracing was done on standing position and the height of the support was adjusted at the level of the ulnar styloid process with elbow flexion and trunk anterior inclination of 30 degrees promoting weight discharge in the upper limbs. Assessment without arm bracing was also performed on standing position, however with the arms relaxed alongside the body. The time interval between assessments was one week.Results: MIP, MEP and maximal voluntary ventilation (MW) were higher with arm bracing than without arm bracing (MIP 64 +/- 22 cmH(2)O versus 54 +/- 24 cmH(2)O, p = 0,00001; MEP 104 +/- 37 cmH(2)O versus 92 +/- 37 cmH(2)O, p = 0,00001 and MW 42 +/- 20 L/min versus 38 +/- 20 L/min, p = 0,003). Other variables did not show statistical significant difference.Conclusion: The arm bracing posture resulted in higher capacity to generate force and endurance of the respiratory muscles in patients with COPD. (C) 2009 Published by Elsevier Espana, S.L. on behalf of Sociedade Portuguesa de Pneumologia. All rights reserved.
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O objetivo do estudo foi comparar a influência da idade na massa muscular e na força muscular, de membros superiores e inferiores, em mulheres acima de 40 anos. Foram estudadas 52 voluntárias, divididas em 3 grupos etários: 40-49 anos(G40, n=16), 50-59 anos(G50, n=18) e 60-70 anos(G60, n=18). Avaliaram-se: massa muscular (MM) por impedância bioelétrica e força muscular-1RM (FM). Para estatística, utilizaram-se análise variância-one-way, teste de Duncan e correlação de Pearson. Observou-se diferença significativa (p<0,05) entre 10,1% na MM entre G40 e G50 e 7,5% entre G50 e G60, totalizando 16,8% nas duas décadas (G40/G60). A FM de membros inferiores foi 16,4% menor entre G40 e G50 e 12,5% entre G50 e G60, perfazendo 25,3% nas duas décadas (p<0,05). Nos membros superiores, não houve diferença significativa da força, entre G40 e G50 (3,3% supino reto e 2,5% rosca direta) e entre G50 e G60 (17,5% e 9,6%), totalizando, nas duas décadas, 20,2% e 12,2%, respectivamente. A Soma das FMs foi corrigida pela MM (FMs/MM), não apresentando diferenças estatísticas entre os grupos. Correlacionando-se MM e FM, houve maior analogia nos membros inferiores (r=0,57), quando comparados aos membros superiores (r=0,42 e r=41, respectivamente). Concluíu-se que as mulheres apresentaram menores valores de MM e de FM nos membros inferiores logo na quinta década de vida. A FMs/MM parece não se alterar em mulheres entre 40 e 60 anos, quando comparadas por grupos etários. A MM reduzida parece ser fator importante para os menores valores de FM observados em mulheres entre 40 e 60 anos.
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CONTEXTO E OBJETIVO: A sarcopenia é o principal fator envolvido no desenvolvimento da síndrome de fragilidade. O objetivo foi investigar a relação entre força muscular de membros inferiores e as variáveis sexo, idade e critérios de fragilidade; comparar a força muscular de membros inferiores com cada critério de fragilidade e verificar seu poder de estimativa do risco para fragilidade em idosos ambulatoriais. TIPO DE ESTUDO E LOCAL: Estudo transversal no Ambulatório de Geriatria de um hospital universitário de Campinas. MÉTODO: Foi avaliada uma amostra de conveniência não-probabilística de 150 idosos de ambos os sexos em acompanhamento ambulatorial, com coleta de dados sócio-demográficos (sexo e idade) e de saúde física (critérios de fragilidade e teste de levantar e sentar da cadeira cinco vezes consecutivamente). Foram realizadas análises descritivas, de comparação e de regressão logística multivariada. RESULTADOS: A maioria dos idosos (77,3%) apresentou idade igual ou superior a 70 anos, com predomínio do sexo feminino (64,0%) e baixo escore no teste de levantar e sentar da cadeira cinco vezes consecutivas (81,4% escore 0 ou 1), 55,3% dos idosos apresentaram três ou mais critérios de fragilidade. Verificou-se associação significativa entre a força muscular de membros inferiores e as variáveis idade e número de critérios de fragilidade. CONCLUSÕES: Menores níveis de força muscular de membros inferiores estão associados a idade avançada e maior presença de sinais de fragilidade. Além disso, a força muscular de membros inferiores também está associada com os critérios redução da velocidade de marcha e da força de preensão palmar.
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Pós-graduação em Bases Gerais da Cirurgia - FMB
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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
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Pós-graduação em Engenharia Mecânica - FEG
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)