Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy
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...
| Autores: | , , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2011 |
| País: | España |
| Institución: | Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau) |
| Repositorio: | r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau |
| OAI Identifier: | oai:iibsantpau.fundanetsuite.com:p11610 |
| Acceso en línea: | https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11610 https://www.scopus.com/inward/record.uri?eid=2-s2.0-83455262487&doi=10.1371%2fjournal.pone.0029061&partnerID=40&md5=f5c17765ff3c74c1c1ba4164132f92df |
| Access Level: | acceso abierto |
| Palabra clave: | dysferlin CD14 antigen DYSF protein, human membrane protein muscle protein adolescent adult aged article child clinical article controlled study dysferlin gene dysferlin myopathy female gene gene expression gene mutation human human cell human tissue immunohistochemistry male monocyte muscle biopsy mutational analysis myopathy preschool child protein expression skeletal muscle Western blotting biopsy comparative study dysferlinopathy genetics limb girdle muscular dystrophy metabolism mutation nucleotide sequence pathology solubility Adult Antigens, CD14 Biopsy DNA Mutational Analysis Female Humans Male Membrane Proteins Monocytes Muscle Proteins Muscle, Skeletal Muscular Dystrophies, Limb-Girdle Mutation Solubility |
| Sumario: | 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. |
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