title: EIF4G1 mutations do not cause Parkinson's disease.
abstract: EIF4G1 mutations were previously reported as a cause of Parkinson's disease (PD). As a result of this finding, considerable work has been performed to test this idea and to examine the functional role of eukaryotic translation initiation factor 4-gamma in the pathogenic process underlying PD. Here, we show that the originally described mutation is likely a rare benign variant. We tested this variant in a very large series of subjects and show that it is more frequent in controls than cases. We argue here that this infers that EIF4G1 mutations are not related to PD.
authors.affiliation: Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.
authors.forename: Noah
authors.initials: N
authors.lastname: Nichols
authors.affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
authors.forename: Jose M
authors.initials: JM
authors.lastname: Bras
authors.affiliation: Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
authors.forename: Dena G
authors.initials: DG
authors.lastname: Hernandez
authors.affiliation: Department of Clinical Genetics, VU University Medical Center (VUmc), Amsterdam, the Netherlands; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
authors.forename: Iris E
authors.initials: IE
authors.lastname: Jansen
authors.affiliation: Sorbonne Universités, UPMC (Paris 6), UMR S 1127, Inserm U 1127, CNRS UMR 7225, and ICM, Paris, France.
authors.forename: Suzanne
authors.initials: S
authors.lastname: Lesage
authors.affiliation: Department of Clinical Neurosciences, UCL Institute of Neurology, London, UK.
authors.forename: Steven
authors.initials: S
authors.lastname: Lubbe
authors.affiliation: Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA. Electronic address: singleta@mail.nih.gov.
authors.forename: Andrew B
authors.initials: AB
authors.lastname: Singleton
mesh_terms: D039603:Eukaryotic Initiation Factor-4G / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D006801:Humans; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*
chemical_list: C113920:EIF4G1 protein, human; D039603:Eukaryotic Initiation Factor-4G
keywords: EIF4G1; Genetics; Mutation; Parkinson's disease