Linked Life Data

20850480

Source:http://linkedlifedata.com/resource/pubmed/id/20850480

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2010-11-15
pubmed:abstractText
Rapid-onset dystonia with parkinsonism (RDP) or DYT12 dystonia is a rare form of primary, generalized dystonia. Patients do not present with any symptoms until triggered by a physiological stressor. Within days, patients will show both dystonia and parkinsonism. Mutations resulting in a loss of function in the ATP1A3 gene have been identified as the cause of RDP. ATP1A3 encodes the ?3 subunit of the Na(+)/K(+)-ATPase, which is exclusively expressed in neurons and cardiac cells. We have previously created a line of mice harboring a point mutation of the Atp1a3 gene (mouse homolog of the human ATP1A3 gene) that results in a loss of function of the ?3 subunit. The Atp1a3 mutant mice showed hyperactivity, spatial learning and memory deficits, and increased locomotion induced by methamphetamine. However, the full spectrum of the motor phenotype has not been characterized in the mutant mice and it is not known whether triggers such as restraint stress affect the motor phenotype. Here, we characterized the motor phenotype in normal heterozygous Atp1a3 mutant mice and heterozygous Atp1a3 mutant mice that have been exposed to a restraint stress. We found that this type of trigger induced significant deficits in motor coordination and balance in the mutant mice, characteristic of other genotypic dystonia mouse models. Furthermore, stressed mutant mice also had a decreased thermal sensitivity and alterations in monoamine metabolism. These results suggest that the Atp1a3 mutant mouse models several characteristics of RDP and further analysis of this mouse model will provide great insight into pathogenesis of RDP.
pubmed:grant
http://linkedlifedata.com/resource/pubmed/grant/5R01HL28573, http://linkedlifedata.com/resource/pubmed/grant/NS37409, http://linkedlifedata.com/resource/pubmed/grant/NS47466, http://linkedlifedata.com/resource/pubmed/grant/NS47692, http://linkedlifedata.com/resource/pubmed/grant/NS54246, http://linkedlifedata.com/resource/pubmed/grant/NS57098, http://linkedlifedata.com/resource/pubmed/grant/NS65273, http://linkedlifedata.com/resource/pubmed/grant/NS72872, http://linkedlifedata.com/resource/pubmed/grant/P30 NS047466-06, http://linkedlifedata.com/resource/pubmed/grant/P30 NS057098-05, http://linkedlifedata.com/resource/pubmed/grant/R01 NS054246-04, http://linkedlifedata.com/resource/pubmed/grant/R03 AG017291-01, http://linkedlifedata.com/resource/pubmed/grant/R21 NS042356-03, http://linkedlifedata.com/resource/pubmed/grant/R21 NS047692-03, http://linkedlifedata.com/resource/pubmed/grant/R21 NS065273-02, http://linkedlifedata.com/resource/pubmed/grant/R21 NS072872-01, http://linkedlifedata.com/resource/pubmed/grant/R21 NS072872-02
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1872-7549
pubmed:author
pubmed:copyrightInfo
Copyright © 2010 Elsevier B.V. All rights reserved.
pubmed:issnType
Electronic
pubmed:day
20
pubmed:volume
216
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
659-65
pubmed:dateRevised
2011-10-6
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism.
pubmed:affiliation
Center for Neurodegeneration and Experimental Therapeutics, Department of Neurology, School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural