Human Molecular Genetics, Vol 6, 1185-1191, Copyright © 1997 by Oxford University Press
L Metzinger, DJ Blake, MV Squier, LV Anderson, AE Deconinck, R Nawrotzki, D Hilton-Jones and KE Davies
Mutations in the genes encoding dystrophin or dystrophin-associated
proteins are responsible for Duchenne muscular dystrophy or various forms
of limb-girdle muscular dystrophies respectively. We have recently cloned
the gene for the murine 87 kDa postsynaptic protein dystrobrevin, a
dystrophin-associated protein. Anti-dystrobrevin antibodies stain the
sarcolemma in normal skeletal muscle indicating that dystrobrevin
co-localises with dystrophin and the dystrophin- associated protein
complex. By contrast, dystrobrevin membrane staining is severely reduced in
muscles of Duchenne muscular dystrophy patients, consistent with
dystrobrevin being a dystrophin-associated protein. Interestingly,
dystrobrevin staining at the sarcolemma is dramatically reduced in patients
with limb-girdle muscular dystrophy arising from the loss of one or all of
the sarcoglycan components. Normal dystrobrevin staining is observed in
patients with other forms of limb- girdle muscular dystrophy where
dystrophin and the rest of the dystrophin-associated protein complex are
normally expressed and in other neuromuscular disorders. Our results show
that dystrobrevin- deficiency is a generic feature of dystrophies linked to
dystrophin and the dystrophin-associated proteins. This is the first
indication that a cytoplasmic component of the dystrophin-associated
protein complex may be involved in the pathogenesis of limb-girdle muscular
dystrophy.
ARTICLES
Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy
Department of Biochemistry, University of Oxford, UK.
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