title: D620N mutation in the VPS35 gene and R1205H mutation in the EIF4G1 gene are uncommon in the Greek population.
abstract: Recently, vacuolar protein sorting 35 (VPS35) and eukaryotic translation initiation factor 4 gamma 1 (EIF4G1) have been identified as new causal Parkinson's disease (PD) genes, with the VPS35 D620N and EIF4G1 R1205H mutations being identified in both autosomal dominant late-onset familial and sporadic PD patients. However, the frequencies of these two mutations among different ethnic groups vary. We studied the VPS35 D620N and EIF4G1 R1205H mutations in a total of 333 individuals, 202 Greek patients with sporadic PD and 131 control subjects, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. None of our studied individuals carried these two mutations. Our data support that the VPS35 D620N and EIF4G1 R1205H mutations are not a common cause of PD in the Greek population.
authors: Department of General Biology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors: Kallirhoe
authors: K
authors: Kalinderi
authors: Third Department of Neurology, G. Papanikolaou Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors: Sevasti
authors: S
authors: Bostantjopoulou
authors: Department of Neurology, Hippocration Hospital, Thessaloniki, Greece.
authors: Zoe
authors: Z
authors: Katsarou
authors: Department of General Biology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors: Maria
authors: M
authors: Dimikiotou
authors: Department of General Biology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece. Electronic address: lfidani@med.auth.gr.
authors: Liana
authors: L
authors: Fidani
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D039603:Eukaryotic Initiation Factor-4G / Q000235:genetics*; D006115:Greece; D006801:Humans; D009154:Mutation; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics*; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: C113920:EIF4G1 protein, human; D039603:Eukaryotic Initiation Factor-4G; C419573:VPS35 protein, human; D033921:Vesicular Transport Proteins
keywords: EIF4G1 gene; Mutation; Parkinson’s disease; VPS35 gene