Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy
| العنوان: | Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy |
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| المؤلفون: | Gallardo, Eduard, de Luna Salva, Noemí, Diaz-Manera, Jordi, Rojas-Garcia, Ricard, Gonzalez-Quereda, L., Flix, Bàrbara, de Morrée, Antoine, van der Maarel, Silvère, Illa, Isabel, Universitat Autònoma de Barcelona |
| المصدر: | PLoS ONE Dipòsit Digital de Documents de la UAB Universitat Autònoma de Barcelona PLoS ONE, 6(12) PLoS One r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname PLoS ONE, Vol 6, Iss 12, p e29061 (2011) Gallardo, E, de Luna, N, Diaz-Manera, J, Rojas-García, R, Gonzalez-Quereda, L, Flix, B, de Morrée, A, van der Maarel, S & Illa, I 2011, ' Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy ', PLOS ONE, vol. 6, no. 12, pp. e29061 . https://doi.org/10.1371/journal.pone.0029061Test |
| بيانات النشر: | Public Library of Science, 2011. |
| سنة النشر: | 2011 |
| مصطلحات موضوعية: | Male, Pathology, Anatomy and Physiology, dysferlin myopathy, Biopsy, DNA Mutational Analysis, Lipopolysaccharide Receptors, Muscle Proteins, DYSF protein, human, Protein Synthesis, medicine.disease_cause, preschool child, Biochemistry, Muscular Dystrophies, Monocytes, Western blotting, Dysferlin, Monocytes/metabolism, membrane protein, genetics, gene mutation, Musculoskeletal System, comparative study, limb girdle muscular dystrophy, Muscle Proteins/genetics, Mutation, child, clinical article, Multidisciplinary, biology, medicine.diagnostic_test, adult, article, Neuromuscular Diseases, dysferlinopathy, aged, medicine.anatomical_structure, female, Neurology, immunohistochemistry, monocyte, Blood Chemistry, Lipopolysaccharide Receptors/metabolism, Immunohistochemistry, Muscle, Medicine, Female, dysferlin gene, medicine.symptom, muscle biopsy, myopathy, Research Article, mutational analysis, Adult, Dysferlinopathy, medicine.medical_specialty, Mutation/genetics, Science, Muscular Dystrophies, Limb-Girdle/diagnosis, muscle protein, Antigens, CD14, medicine, Humans, controlled study, human, Membrane Proteins/genetics, skeletal muscle, Myopathy, gene, Muscle, Skeletal, protein expression, Biology, Muscle, Skeletal/metabolism, Muscle biopsy, Plasma Proteins, human cell, solubility, Skeletal muscle, Proteins, Membrane Proteins, nucleotide sequence, CD14 antigen, medicine.disease, human tissue, dysferlin, Muscular Dystrophies, Limb-Girdle, Solubility, adolescent, biology.protein, gene expression, pathology, metabolism |
| الوصف: | Background: Dysferlinopathies are caused by mutations in the dysferlin gene (DYSF). Diagnosis is complex due to the high clinical variability of the disease and because dysferlin expression in the muscle biopsy may be secondarily reduced due to a primary defect in some other gene. Dysferlin is also expressed in peripheral blood monocytes (PBM). Studying dysferlin in monocytes is used for the diagnosis of dysferlin myopathies. The aim of the study was to determine whether dysferlin expression in PBM correlates with that in skeletal muscle. Methodology/Principal Findings: Using western-blot (WB) we quantified dysferlin expression in PBM from 21 pathological controls with other myopathies in whom mutations in DYSF were excluded and from 17 patients who had dysferlinopathy and two mutations in DYSF. Results were compared with protein expression in muscle by WB and immunohistochemistry (IH). We found a good correlation between skeletal muscle and monocytes using WB. However, IH results were misleading because abnormal expression of dysferlin was also observed in 13/21 pathological controls. Conclusions/Significance: The analysis of dysferlin protein expression in PBM is helpful when: 1) the skeletal muscle IH pattern is abnormal or 2) when muscle WB can not be performed either because muscle sample is lacking or insufficient or because the muscle biopsy is taken from a muscle at an end-stage and it mainly consists of fat and fibrotic tissue. © 2011 Gallardo et al. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1932-6203 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49021bb466532c6b22e57fd3201a9de0Test http://europepmc.org/articles/PMC3241698Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....49021bb466532c6b22e57fd3201a9de0 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19326203 |
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