title: Mutations in VPS26A are not a frequent cause of Parkinson's disease.
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.
authors.affiliation: Department of Neurogenetics, University of Lübeck, Lübeck, Germany.
authors.forename: Eva
authors.initials: E
authors.lastname: Koschmidder
authors.affiliation: 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.
authors.forename: Brit
authors.initials: B
authors.lastname: Mollenhauer
authors.affiliation: Department of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Psychiatry and Psychotherapy, University of Lübeck, Lübeck, Germany.
authors.forename: Meike
authors.initials: M
authors.lastname: Kasten
authors.affiliation: Department of Neurogenetics, University of Lübeck, Lübeck, Germany.
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.affiliation: Department of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address: katja.lohmann@neuro.uni-luebeck.de.
authors.forename: Katja
authors.initials: K
authors.lastname: Lohmann
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D004843:Epistasis, Genetic; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008247:Lysosomes / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics; D009154:Mutation; D020125:Mutation, Missense; D010300:Parkinson Disease / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics; D033921:Vesicular Transport Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: C498296:VPS26A protein, human; C419573:VPS35 protein, human; D033921:Vesicular Transport Proteins
keywords: Parkinson's disease; Retromer complex; VPS26A; VPS35