Journal
MOLECULES AND CELLS
Volume 27, Issue 1, Pages 89-97Publisher
KOREAN SOC MOLECULAR & CELLULAR BIOLOGY
DOI: 10.1007/s10059-009-0009-z
Keywords
disorders; dystonia; DYT1; movement; synapse
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Funding
- Korea Research Foundation Grant funded by the Korean Government (Ministry of Education and Human Research Development, Basic Research Promotion Fund) [KRF2R05-003-E00223, KRF-2006-521-E00103]
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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.
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