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Article (Scientific journals)
Mortalin mutations are not a frequent cause of early-onset Parkinson disease.
Freimann, Karen; Zschiedrich, Katja; Bruggemann, Norbert et al.
2013In Neurobiology of Aging, 34 (11), p. 2694.e19-20
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Keywords :
Adult; Age of Onset; Aged; Cell Line, Tumor; DNA Mutational Analysis; Female; Genetic Predisposition to Disease/genetics; Genotype; HSP70 Heat-Shock Proteins/genetics; Humans; Male; Middle Aged; Mitochondria/metabolism; Mutation/genetics; Neuroblastoma/pathology; Oxygen Consumption/genetics; Parkinson Disease/genetics/pathology; Transfection; Young Adult; Early-onset Parkinson disease; GRP75; HSPA9; Mitochondria; Mortalin
Abstract :
[en] Dysfunctional mitochondria and the mitochondrial chaperone mortalin (HSPA9, GRP75) have been implicated in the pathogenesis of Parkinson disease (PD). We screened 139 early-onset PD (EOPD) patients for mutations in mortalin revealing one missense change (p.L358P) that was absent in 279 control individuals. We also found one additional missense variant among the controls (p.T333K). Although both missense changes were predicted to be disease causing, we detected no differences in subcellular localization, mitochondrial morphology, or respiratory function between wild-type and mutant mortalin. These findings suggest that variants in mortalin (1) are not a major cause of EOPD; (2) occur in patients and controls; and (3) do not lead to functional impairment of mitochondria.
Disciplines :
Biochemistry, biophysics & molecular biology
Author, co-author :
Freimann, Karen
Zschiedrich, Katja
Bruggemann, Norbert
GRÜNEWALD, Anne  
Pawlack, Heike
Hagenah, Johann
Lohmann, Katja
KLEIN, Christine 
Westenberger, Ana
External co-authors :
yes
Language :
English
Title :
Mortalin mutations are not a frequent cause of early-onset Parkinson disease.
Publication date :
2013
Journal title :
Neurobiology of Aging
ISSN :
0197-4580
eISSN :
1558-1497
Publisher :
Elsevier, Netherlands
Volume :
34
Issue :
11
Pages :
2694.e19-20
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
Copyright (c) 2013 Elsevier Inc. All rights reserved.
Available on ORBilu :
since 09 February 2016

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