Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy
Gallardo, Eduard (Institut d'Investigació Biomèdica Sant Pau)
de Luna Salva, Noemí (Institut d'Investigació Biomèdica Sant Pau)
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau)
Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau)
Gonzalez-Quereda, L. (Institut d'Investigació Biomèdica Sant Pau)
Flix, Bàrbara (Institut d'Investigació Biomèdica Sant Pau)
de Morrée, Antoine (Leiden University Medical Center)
van der Maarel, Silvère (Leiden University Medical Center)
Illa, Isabel (Institut d'Investigació Biomèdica Sant Pau)
Universitat Autònoma de Barcelona

Date:	2011
Abstract:	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. 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. 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.
Grants:	Instituto de Salud Carlos III PI06/0455 Instituto de Salud Carlos III PI09/1944 Instituto de Salud Carlos III EC07/90601 Instituto de Salud Carlos III ETES08/90622 Instituto de Salud Carlos III PI09/1964
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Published in:	PloS one, Vol. 6 (december 2011) , ISSN 1932-6203

DOI: 10.1371/journal.pone.0029061
PMID: 22194990

9 p, 451.9 KB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
Articles > Published articles