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Neurology. 2002 Mar 26;58(6):881-4.

Association of homozygous 7048G7049 variant in the intron six of Nurr1 gene with Parkinson's disease.

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  • 1Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.

Abstract

OBJECTIVE:

To determine whether the Nurr1 gene, which is critical for the development and maintenance of nigral dopaminergic neurons, is a risk factor associated with PD.

BACKGROUND:

The Nurrl gene is highly expressed in the dopaminergic neurons in the midbrain. Knockout of the gene results in agenesis of nigral dopaminergic neurons and heterozygous knockout mice increases 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced neurotoxicity.

METHODS:

This study included 105 patients with familial PD (fPD) and 120 patients with sporadic PD (sPD) and 221 age-matched healthy control subjects. The polymorphisms and mutations of the Nurr1 gene in patients with PD were initially examined by heteroduplex analysis and sequencing analysis from PCR-amplified Nurr1 gene fragments. A polymorphism in the BseRI restriction site was identified, and a relatively large-scale analysis then was conducted by three independent investigators who were blinded to the clinical status of the subjects.

RESULTS:

A homozygous 7048G7049 polymorphism was found in intron 6 of the Nurr1 gene, which was significantly higher in fPD (10/105; 9.5%) and in sPD (5/120; 4.2%) compared with healthy control subjects (2/221; 0.9%). The mean age and the SD at onset of these homozygote patients with PD was 52 +/- 15 years for fPD and 46 +/- 7 years for sPD. The clinical features of these homozygote patients with PD did not differ from those of typical PD.

CONCLUSIONS:

The homozygote polymorphism of 7048G7049 in intron 6 of the Nurr1 gene is associated with typical PD.

PMID:
11914402
[PubMed - indexed for MEDLINE]
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