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Disease Markers - Volume 33 2012, Issue 3, Pages 127-135

S. N. Pradhan Centre for Neurosciences, University of Calcutta, Kolkata, India

Movement Disorders Clinic, Bangur Institute of Neurosciences, Kolkata, India

Molecular and Human Genetics Division, CSIR-Indian Institute of Chemical Biology, Kolkata, India

Received 30 July 2012; Accepted 30 July 2012

Copyright © 2012 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Parkinson’s disease PD is a common neurodegenerative movement disorder. Among the candidate genes, DJ-1 accounts for about 1% of the cases in different populations. We aim to find the contribution of the gene towards PD among Indians. By screening DJ-1 in 308 PD patients of eastern India and 248 ethnically matched controls, a total of 21 nucleotide variants – including two nonsynonymous changes – were detected. p.Arg98Gln was identified in 6 unrelated patients and 2 controls while p.Val35Ile, a novel change, was found only in 2 unrelated patients. A SNP rs7517357 was observed to be moderately associated with increased risk of PD p < 0.05. The deletion allele g.168–185del of a known 18 bp del-ins-dup polymorphism was found to be over represented p < 0.05 among older patients > 40 years compared to the controls > 45 years. Two of the patients, also heterozygotes for PINK1 mutation, had more severe disease phenotypes, consistent with the reported interaction between PINK1 and DJ-1 gene products [19]. Our results demonstrate that up to 3.9% 12-308 of PD patients of eastern India harbor DJ-1 variants that should be explored further for any causal relationship with PD.

Autor: Tamal Sadhukhan, Arindam Biswas, Shyamal K Das, Kunal Ray, and Jharna Ray



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