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Mortalin mutations are not a frequent cause of early-onset Parkinson disease.
- Source :
-
Neurobiology of aging [Neurobiol Aging] 2013 Nov; Vol. 34 (11), pp. 2694.e19-20. Date of Electronic Publication: 2013 Jul 05. - Publication Year :
- 2013
-
Abstract
- 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.<br /> (Copyright © 2013 Elsevier Inc. All rights reserved.)
- Subjects :
- Adult
Age of Onset
Aged
Cell Line, Tumor
DNA Mutational Analysis
Female
Genotype
Humans
Male
Middle Aged
Mitochondria metabolism
Neuroblastoma pathology
Oxygen Consumption genetics
Parkinson Disease pathology
Transfection
Young Adult
Genetic Predisposition to Disease genetics
HSP70 Heat-Shock Proteins genetics
Mutation genetics
Parkinson Disease genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1558-1497
- Volume :
- 34
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Neurobiology of aging
- Publication Type :
- Academic Journal
- Accession number :
- 23831374
- Full Text :
- https://doi.org/10.1016/j.neurobiolaging.2013.05.021