Molecules and Cells

Korean Society for Molecular and Cellular Biology (한국분자세포생물학회)
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ΔFY Mutation in Human Torsina Induces Locomotor Disability and Abberant Synaptic Structures in Drosophila

  • Lee, Dae-Weon (Ilsong Institute of Life Science, Hallym University) ;
  • Seo, Jong Bok (Metabolome Research Team, Seoul Center, Korea Basic Science Institute) ;
  • Ganetzky, Barry (Laboratory of Genetics, University of Wisconsin-Madison) ;
  • Koh, Young-Ho (Ilsong Institute of Life Science, Hallym University)
  • Received : 2008.10.09
  • Accepted : 2008.10.30
  • Published : 2009.01.31
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Abstract

We investigate the molecular and cellular etiologies that underlie the deletion of the six amino acid residues (${\Delta}F323-Y328$; ${\Delta}FY$) in human torsin A (HtorA). The most common and severe mutation involved with early-onset torsion dystonia is a glutamic acid deletion (${\Delta}E$ 302/303; ${\Delta}E$) in HtorA which induces protein aggregates in neurons and cells. Even though ${\Delta}FY$ HtorA forms no protein clusters, flies expressing ${\Delta}FY$ HtorA in neurons or muscles manifested a similar but delayed onset of adult locomotor disability compared with flies expressing ${\Delta}E$ in HtorA. In addition, flies expressing ${\Delta}FY$ HtorA had fewer aberrant ultrastructures at synapses compared with flies expressing ${\Delta}E$ HtorA. Taken together, the ${\Delta}FY$ mutation in HtorA may be responsible for behavioral and anatomical aberrations in Drosophila.

Keywords

Acknowledgement

Supported by : Korea Research Foundation

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