+ Site Statistics
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

VPS35 and EIF4G1 mutations are rare in Parkinson's disease among Indians

VPS35 and EIF4G1 mutations are rare in Parkinson's disease among Indians

Neurobiology of Aging 34(10): 2442.E1-3

Mutations in 2 genes, vacuolar protein sorting homolog 35 (VPS35) and eukaryotic translation initiation factor 4 gamma 1 (EIF4G1), have been recently reported as causal in autosomal dominant Parkinson's disease (PD) among Caucasians. Their contribution to PD in other ethnic groups remains limited with 1% of VPS35 mutations observed in Caucasian and Japanese populations, but none in Chinese, and 11.57% of EIF4G1 mutations in Caucasian families and 0.09% and 0.17% in Caucasian and Chinese sporadic cases, respectively. We investigated the contribution, if any, of these 2 genes to familial and sporadic PD among the ethnically distinct Indian population. Complete exonic regions of these 2 genes were resequenced in 15 well-characterized PD families; the reported p.Asp620Asn in VPS35 and p.Arg1205His in EIF4G1 mutations were screened in an additional 54 familial and 251 sporadic PD cases, and no mutations were observed. These results, together with our previous reports on the absence of mutations in SNCA and LRRK2, warrant a continuing search for novel causative genes for PD among Indians.

(PDF emailed within 0-6 h: $19.90)

Accession: 036962998

Download citation: RISBibTeXText

PMID: 23726718

DOI: 10.1016/j.neurobiolaging.2013.04.025

Related references

VPS35 Asp620Asn and EIF4G1 Arg1205His mutations are rare in Parkinson disease from southwest China. Neurobiology of Aging 34(6): 1709.E7-8, 2013

EIF4G1 R1205H and VPS35 D620N mutations are rare in Parkinson's disease from South Africa. Neurobiology of Aging 35(2): 445.E1-3, 2014

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease. Neurology 80(11): 982-989, 2013

Linking the VPS35 and EIF4G1 pathways in Parkinson's disease. Neuron 85(1): 1-3, 2015

Parkinson's disease genes VPS35 and EIF4G1 interact genetically and converge on α-synuclein. Neuron 85(1): 76-87, 2015

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?. Neurobiology of Aging 33(9): 2233.E1-2233.E5, 2012

Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy. Neurobiology of Aging 35(10): 2422.E1-2, 2015

EIF4G1 mutations do not cause Parkinson's disease. Neurobiology of Aging 36(8): 2444.E1-4, 2016

Mutations in EIF4G1 are not a common cause of Parkinson's disease. European Journal of Neurology 20(4): E59, 2013

VPS35 mutations in Parkinson disease. American Journal of Human Genetics 89(1): 162-167, 2011

Translation initiator EIF4G1 mutations in familial Parkinson disease. American Journal of Human Genetics 89(3): 398-406, 2011

Contributions of VPS35 mutations to Parkinson's Disease. Neuroscience 2019, 2019

Screening for VPS35 mutations in Parkinson's disease. Neurobiology of Aging 33(4): 838.E1-5, 2012

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population. Parkinsonism and Related Disorders 20(6): 659-661, 2015

Identification of VPS35 mutations replicated in French families with Parkinson disease. Neurology 78(18): 1449-1450, 2012