Dystrobrevin isoform expression in patients with neuromuscular disease.
OBJECTIVE
The role of dystrobrevin, a cytoplasmic component of the dystrophin-protein complex, in neuromuscular diseases has not been fully elucidated. This study evaluated the expression of dystrobrevin in patients with different neuromuscular diseases.


METHODS
We compared dystrobrevin isoforms expression in patients with Duchenne and Becker Muscular Dystrophy (DMD and BMD) and patients with other neuromuscular disorders not linked to the dystrophin-associated complex.


RESULTS
Both, alpha-dystrobrevin-1 and -2 isoforms are markedly reduced in the muscle of patients with dystrophinopathies irrespective of the age at the time of biopsy. Conversely, alpha-dystrobrevin-1 was preserved in Limb Girdle Muscular Dystrophies (LGMD) type 2I patients with altered glycosylation of alpha-dystroglycan and in patients with alterations of alpha-dystroglycan due to defects in extracellular matrix proteins (laminin-alpha2).


CONCLUSIONS
Immunolabeling of dystrobrevin could be a useful marker in the diagnostic of neuromuscular diseases.
Ramelli
G P
GP
Department of Paediatrics, Ospedale San Giovanni Bellinzona, Bellinzona, Switzerland. gianpaolo.ramelli@eoc.ch
D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000378:metabolism; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D016189:Dystrophin / Q000378:metabolism; D049028:Dystrophin-Associated Protein Complex / Q000502:physiology; D049029:Dystrophin-Associated Proteins / Q000378:metabolism*; D006801:Humans; D009136:Muscular Dystrophies / Q000209:etiology / Q000378:metabolism* / Q000473:pathology; D020033:Protein Isoforms / Q000378:metabolism; D055815:Young Adult
D015415:Biomarkers; D016189:Dystrophin; D049028:Dystrophin-Associated Protein Complex; D049029:Dystrophin-Associated Proteins; D020033:Protein Isoforms; C098885:dystrobrevin