Anti-eIF4G1 monoclonal antibody, clone 4B20

The Asp620Asn mutation in the vacuolar protein sorting protein 35 (VPS35) gene and the Arg1205His mutation in the eukaryotic translation initiation factor 4 gamma 1 (EIF4G1) gene were identified in autosomal dominant late-onset familial and sporadic Parkinson disease (PD) patients in a Caucasian population. However, the frequencies of these 2 mutations among Chinese PD patients are unknown. We examined these mutations in a large cohort consisting of 609 PD patients and 600 healthy control subjects from Southwest China. Our results suggest that the Asp620Asn mutation in VPS35 and the Arg1205His mutation in EIF4G1 do not play a role in PD in the Southwest China population. The novel Arg1205Cys mutation in EIF4G1 detected in the current study should be further studied among other Asian patients. (C) 2013 Elsevier Inc. All rights reserved.

Parkinson's disease (PD) is characterized by progressive loss of dopaminergic neurons in the substantia nigra pars compacta. This degeneration leads to bradykinesia, muscular rigidity, resting tremor, and postural instability. It affects 1%-2% of the population above the age of 60 years. Recently, 2 studies identified the Asp620Asn mutation in the vacuolar protein sorting 35 (VPS35) gene, and the Arg1205His in the eukaryotic translation initiation factor 4 gamma 1 gene (EIF4G1) were reported to be associated an autosomal dominant form of PD. In this study we screened these mutations in a cohort of 250 South Italy patients with familial PD and 250 control subjects from South Italy. VPS35 Asp620Asn mutation and EIF4G1 Arg1205His mutation were not found in our 250 PD patients. This result, with our previous reports on the absence of mutations in LRRK2 and in SNCA, warrant a continuing search for novel causative genes for PD among South Italy. (C) 2014 Elsevier Inc. All rights reserved.