Mortalin mutations are not a frequent cause of early-onset Parkinson disease
| Autor: | Katja Zschiedrich, Johann Hagenah, Heike Pawlack, Ana Westenberger, Karen Freimann, Anne Grünewald, Katja Lohmann, Norbert Brüggemann, Christine Klein |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
Male Aging Genotype DNA Mutational Analysis Disease Biology Mitochondrion Transfection Pathogenesis Neuroblastoma Young Adult Oxygen Consumption Cell Line Tumor Missense mutation Humans Respiratory function Genetic Predisposition to Disease HSP70 Heat-Shock Proteins Age of Onset HSPA9 Aged Genetics General Neuroscience Parkinson Disease Middle Aged Mitochondria Mutation Female Neurology (clinical) Geriatrics and Gerontology Age of onset Developmental Biology |
| Zdroj: | BASE-Bielefeld Academic Search Engine |
| ISSN: | 1558-1497 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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