Mortalin mutations are not a frequent cause of early-onset Parkinson disease

2 Citations (Scopus)

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.

Original languageEnglish
JournalNeurobiology of Aging
Volume34
Issue number11
ISSN0197-4580
DOIs
Publication statusPublished - 01.11.2013

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