Résumé :
|
Communication n° 541 Background / objective: The scapuloperoneal myopathies (SPM) are an heterogeneous group of muscle diseases, including the Emery-Dreifuss Syndrome (EDS) and others muscular dystrophies. The aim of this study is to determine the calpain, lamin A/C and emerin deficit frequency in patients with dystrophic SPM Patients /Methods: The study included twenty one patients with SPM and dystrophic features with and without tendinous retractions. They all presented absence of vacuoles or inclusion bodies and normal immunostaining for dystrophin, sarcoglycans, merosin and dysferlin in muscle, as well as absence of mutation on FSHD gene. Quantitative immunoblot analysis of the following proteins was performed: calpain-3, lamin A/C, and emerin. Results: Patients were classified clinically into two groups: a) eleven cases without retractions, rigid spine and cardiomyopathy ( simple SPMD ), b) ten subjects with EDS features ( EDS group ). In the simple SPMD group three patient presented undetectable levels calpain-3 while two cases manifested deficiency of lamin A/C . The EDS group showed absent lamin A/C in three cases and absent emerin in two others; five EDS patients did not present abnormalities of any of the protein tested. Conclusions: Calpain deficiency is relatively frequent in not complicated SPMD. Lamin A/C and emerin deficiency is found in only 50% of cases of EDS suggesting that other proteins /genes may be involved in this syndrome. Lamin A/C deficit may be found in patients with simple SPMD indicating that this protein may be associated with a broader spectrum of neuromuscular pictures. Study supported by a grant from Instituto EspañolCarlos III (FIS 01/3075) and a grant from Generalitat Valenciana (CTIDIB/2002/328)
|