Document Detail


A Drosophila model of GSS syndrome suggests defects in active zones are responsible for pathogenesis of GSS syndrome.
MedLine Citation:
PMID:  20829230     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We have established a Drosophila model of Gerstmann-Sträussler-Scheinker (GSS) syndrome by expressing mouse prion protein (PrP) having leucine substitution at residue 101 (MoPrP(P101L)). Flies expressing MoPrP(P101L), but not wild-type MoPrP (MoPrP(3F4)), showed severe defects in climbing ability and early death. Expressed MoPrP(P101L) in Drosophila was differentially glycosylated, localized at the synaptic terminals and mainly present as deposits in adult brains. We found that behavioral defects and early death of MoPrP(P101L) flies were not due to Caspase 3-dependent programmed cell death signaling. In addition, we found that Type 1 glutamatergic synaptic boutons in larval neuromuscular junctions of MoPrP(P101L) flies showed significantly increased numbers of satellite synaptic boutons. Furthermore, the amount of Bruchpilot and Discs large in MoPrP(P101L) flies was significantly reduced. Brains from scrapie-infected mice showed significantly decreased ELKS, an active zone matrix marker compared with those of age-matched control mice. Thus, altered active zone structures at the molecular level may be involved in the pathogenesis of GSS syndrome in Drosophila and scrapie-infected mice.
Authors:
Jin-Kyu Choi; Yong-Chul Jeon; Dae-Weon Lee; Jae-Min Oh; Hyun-Pil Lee; Byung-Hoon Jeong; Richard I Carp; Young Ho Koh; Yong-Sun Kim
Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-09-09
Journal Detail:
Title:  Human molecular genetics     Volume:  19     ISSN:  1460-2083     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  2010 Nov 
Date Detail:
Created Date:  2010-10-20     Completed Date:  2011-02-17     Revised Date:  2012-03-12    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  4474-89     Citation Subset:  IM    
Affiliation:
Ilsong Institute of Life Science, Hallym University, 1605-4 Gwanyangdong Dongangu, Anyang, Gyeonggi-Do, Republic of Korea.
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MeSH Terms
Descriptor/Qualifier:
Animals
Brain / metabolism,  pathology
Disease Models, Animal*
Drosophila*
Female
Gerstmann-Straussler-Scheinker Disease / genetics*,  metabolism,  pathology
Humans
Mice
Mice, Inbred C57BL
Mice, Transgenic
Prions / genetics*,  metabolism
Chemical
Reg. No./Substance:
0/Prions; 0/Prnp protein, mouse

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