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J. Biol. Chem., Vol. 277, Issue 4, 2377-2380, January 25, 2002
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From The Life Sciences Institute and Lafora disease (progressive myoclonus epilepsy of
Lafora type) is an autosomal recessive neurodegenerative disorder
resulting from defects in the EPM2A gene. EPM2A
encodes a 331-amino acid protein containing a carboxyl-terminal
phosphatase catalytic domain. We demonstrate that the EPM2A
gene product also contains an amino-terminal carbohydrate binding
domain (CBD) and that the CBD is critical for association with glycogen
both in vitro and in vivo. The CBD domain
localizes the phosphatase to specific subcellular compartments that
correspond to the expression pattern of glycogen processing enzyme,
glycogen synthase. Mutations in the CBD result in mis-localization of
the phosphatase and thereby suggest that the CBD targets laforin to
intracellular glycogen particles where it is likely to function. Thus
naturally occurring mutations within the CBD of laforin likely result
in progressive myoclonus epilepsy due to mis-localization of
phosphatase expression.
ACCELERATED PUBLICATION
A Unique Carbohydrate Binding Domain Targets the Lafora
Disease Phosphatase to Glycogen*
,§¶,, and
Department of
Biological Chemistry, and the § Biophysics Research
Division, University of Michigan, Ann
Arbor, Michigan 48109-0606
*
This work was supported by the National Institutes of Health
and by the Walther Cancer Institute.The costs of publication of this
article were defrayed in part by the
payment of page charges. The article
must therefore be hereby marked
"advertisement" in accordance with 18 U.S.C. Section
1734 solely to indicate this fact.
To whom correspondence should be addressed: Dept. of
Biological Chemistry, University of Michigan Medical School, Ann Arbor, MI 48109-0606. Tel.: 734-647-3998; Fax: 734-763-4581; E-mail: jedixon@umich.edu.
Copyright © 2002 by The American Society for Biochemistry and Molecular Biology, Inc.
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