Journal article

Analysis of PArkin Co-Regulated Gene in a Taiwanese-Ethnic Chinese cohort with early-onset Parkinson's disease

Juliet M Taylor, Ruey-Meei Wu, Matthew J Farrer, Martin B Delatycki, Paul J Lockhart

PARKINSONISM & RELATED DISORDERS | ELSEVIER SCI LTD | Published : 2009

Abstract

PArkin Co-Regulated Gene (PACRG) is a novel gene which is transcriptionally co-regulated with the parkin gene (PRKN) by a shared bi-directional promoter. To determine whether mutations in PACRG are associated with early-onset Parkinson's disease (EO-PD), we performed sequence and dosage analysis of 76 EO-PD patients from a Taiwanese-Ethnic Chinese cohort. This analysis identified two novel nucleotide variants in the non-coding region of PACRG. One patient had an IVS2+247851T>C heterozygous change and two patients had an IVS4+78A>G heterozygous alteration. Neither of these variants was present in the 91 controls tested. A third intronic polymorphism (IVS1+85744insC) was present in cases and c..

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Grants

Awarded by National Health & Medical Research Council (Australia)


Awarded by NHMRC RD Wright Fellow


Awarded by Morris K. Udall Parkinson's Disease Research Center of Excellence


Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE


Funding Acknowledgements

The authors appreciate the advice and assistance given by laboratory and Institute colleagues and particularly thank all the patients who have contributed to our research. This work was supported in part by National Health & Medical Research Council (Australia) project grant #334349 to PJL. PJL is an NHMRC RD Wright Fellow (#334346) and MBD is an NHMRC practitioner fellow (#284520). MJF and Mayo Clinic Jacksonville is a Morris K. Udall Parkinson's Disease Research Center of Excellence (NINDS P50 #NS40256).