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Journal of Biochemistry Advance Access published online on June 30, 2006
Journal of Biochemistry, doi:10.1093/jb/mvj138
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© 2006 The Japanese Biochemical Society.
Received May 23, 2006
Accepted June 14, 2006

Regular Paper

Myoclonus, Motor Deficits, Alterations in Emotional Responses and Monoamine Metabolism in {varepsilon}-Sarcoglycan Deficient Mice

Fumiaki Yokoi 1, Mai Tu Dang 1, Jianyong Li 2, and Yuqing Li 1 *

1 Department of Molecular and Integrative Physiology, Beckman Institute for Advanced Science and Technology, 405 N. Mathews Ave., Urbana, Illinois 61801, USA
2 Department of Pathobiology, University of Illinois at Urbana-Champaign, 405 N. Mathews Ave., Urbana, Illinois 61801, USA

* To whom correspondence should be addressed.
Yuqing Li, E-mail: y-li4{at}uiuc.edu


  Abstract

Mutations of {varepsilon}-sarcoglycan gene (SGCE) have been implicated in myoclonus-dystonia (M-D), a movement disorder. To determine the pathophysiology of M-D, we produced Sgce knockout mice and found that the knockout mice exhibited myoclonus, motor impairments, hyperactivity, anxiety, depression, significantly higher levels of striatal dopamine and its metabolites, and an inverse correlation between the dopamine metabolism and serotonin turnover. The results suggest that the diverse symptoms associated with M-D are indeed resulted from a single SGCE gene mutation that leads to alterations of dopaminergic and serotonergic systems. Therefore, antipsychotic agents and serotonin reuptake inhibitors may offer potential benefits for M-D patients.

Keywords: dopamine; dystonia; myoclonus; sarcoglycan; serotonin.
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