Abstract
Resent studies suggest that hypoglycosylation of α-dystroglycan (α-DG) may play an
essential role in the pathogenesis of Fukuyama-type congenital muscular dystrophy
(FCMD), which is caused by defects in the fukutin gene and characterized by dystrophic
changes in the skeletal muscles and dysplastic lesions in the central nervous system.
α-DG is expressed in many organs in addition to muscle and brain, although these organs
are not affected in FCMD. To elucidate whether or not fukutin protein is involved
in the glycosylation of α-DG in non-muscle somatic organs, we examined the distribution
pattern of fukutin in developing and adult mouse tissues. The fukutin antisera labeled
the acinar cells of the pancreas, the renal glomerular and tubular cells, and the
epithelium of the bronchi, salivary gland, alimentary tract and skin in both fetal
and adult mice. This distribution pattern was also confirmed by in situ hybridization.
Antisera against α-DG and β-DG labeled the same cellular populations in each organ,
especially along the cell surface membrane. We also examined the glycosylation status
of α-DG in autopsied FCMD cases (n=5) and found evidence of hypoglycosylation in the kidney, lung, skin and intestine.
These results suggest that fukutin protein is involved in the glycosylation process
of α-DG in non-muscle somatic organs both during development and in the adult. It
is unclear why muscle and brain symptoms predominate in FCMD, however re-evaluation
of the functions of α-DG and fukutin protein in non-muscle somatic organs may provide
valuable insight.
Keywords
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Article info
Publication history
Accepted:
January 6,
2004
Received in revised form:
December 28,
2003
Received:
September 1,
2003
Identification
Copyright
© 2004 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
