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Mol. Cells 2009; 27(1): 89-97

Published online January 31, 2009

https://doi.org/10.1007/s10059-009-0009-z

© The Korean Society for Molecular and Cellular Biology

Delta FY Mutation in Human Torsina Induces Locomotor Disability and Abberant Synaptic Structures in Drosophila

Dae-Weon Lee, Jong Bok Seo, Barry Ganetzky and Young-Ho Koh

Received: October 9, 2008; Revised: October 29, 2008; Accepted: October 30, 2008

Abstract

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

Keywords disorders, dystonia, DYT1, movement, synapse

Article

Research Article

Mol. Cells 2009; 27(1): 89-97

Published online January 31, 2009 https://doi.org/10.1007/s10059-009-0009-z

Copyright © The Korean Society for Molecular and Cellular Biology.

Delta FY Mutation in Human Torsina Induces Locomotor Disability and Abberant Synaptic Structures in Drosophila

Dae-Weon Lee, Jong Bok Seo, Barry Ganetzky and Young-Ho Koh

Received: October 9, 2008; Revised: October 29, 2008; Accepted: October 30, 2008

Abstract

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

Keywords: disorders, dystonia, DYT1, movement, synapse

Mol. Cells
Dec 31, 2021 Vol.44 No.12, pp. 861~919
COVER PICTURE
Structure of the fly peripheral neurons in the fly head. Flies have basic sensory organs including eyes for vision, antennae and maxillary palps for olfaction, and proboscis (magenta) for gustation which can be labelled with monoclonal antibody 22C10. The figure is a 3D reconstructed image with 30 slices of confocal sections with 3 μm interval. It shows that the proboscis is required for sensing attractive carboxylic acids such as glycolic acid, citric acid, and lactic acid (Shrestha and Lee, pp. 900-910).

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