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Neurobiol Aging. 2014 Jun;35(6):1512.e1-2. doi: 10.1016/j.neurobiolaging.2013.12.016. Epub 2013 Dec 27.

Mutations in VPS26A are not a frequent cause of Parkinson's disease.

Author information

1
Department of Neurogenetics, University of Lübeck, Lübeck, Germany.
2
Center of Parkinsonism and Movement Disorders, Paracelsus-Elena-Klinik Kassel, Kassel, Germany; Department of Neurosurgery and Neuropathology, University Medical Center, Georg August University Göttingen, Göttingen, Germany.
3
Department of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Psychiatry and Psychotherapy, University of Lübeck, Lübeck, Germany.
4
Department of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address: katja.lohmann@neuro.uni-luebeck.de.

Abstract

VPS35 mutations have been identified as a cause of autosomal dominantly inherited Parkinson's disease (PD). VPS35 interacts with VPS26A in the retromer complex that links mitochondrial and lysosomal pathways, which have both been shown to be dysfunctional in PD. Thus, mutations in VPS26A may be associated with PD. To test this hypothesis, we screened 245 idiopathic PD patients and 185 control subjects for mutations in the retromer subunit VPS26A. We found 2 novel missense variants in patients and 2 known missense variants in control subjects. The missense variants were unlikely to be disease causing, suggesting that VPS26A mutations are not a frequent cause of PD.

KEYWORDS:

Parkinson's disease; Retromer complex; VPS26A; VPS35

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