Research paperD620N mutation in the VPS35 gene and R1205H mutation in the EIF4G1 gene are uncommon in the Greek population

- The first independent study for VPS35 D620N and EIF4G1 R1205H in Greece.
- These mutations do not seem to be major causes of PD in the Greek population.
- Frequency and pathogenicity of VPS35 and EIF4G1 mutations should be further studied.

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.