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Association of Nurr1 gene mutations with Parkinson's disease in the Han population living in the Hubei province of China.

Lou X, Liao W - Neural Regen Res (2012)

Bottom Line: Nurr1 defects could in part underlie Parkinson's disease pathogenesis, and Nurr1 gene polymorphism has been found in Caucasian patients with Parkinson's disease.The anomalous electrophoresis fragment in exon 3 of Nurr1 gene contained a 709C/A missense mutation, and a polymorphic single nucleotide polymorphism at 388G/A was identified in exon 2.Our data indicate that the single nucleotide polymorphism 388G/A in exon 2 and the 709C/A missense mutation in exon 3 of the Nurr1 gene in the Chinese population might affect the pathogenesis of Parkinson's disease.

View Article: PubMed Central - PubMed

Affiliation: Department of Rehabilitation Medicine, Zhongnan Hospital, Wuhan University, Wuhan 430071, Hubei Province, China ; Department of Neurology, Fourth Affiliated Hospital, Nanchang University, Nanchang 330003, Jiangxi Province, China.

ABSTRACT
Nurr1 defects could in part underlie Parkinson's disease pathogenesis, and Nurr1 gene polymorphism has been found in Caucasian patients with Parkinson's disease. In this study, heteroduplex technology was applied to compare the DNA sequences of eight exons of Nurr1 among 200 sporadic Parkinson's disease patients and 200 healthy controls in the Han population in the Hubei province, China. One allele amplified from exon 3 of Nurr1 was polymorphic in five Parkinson's disease patients (2.5%, 5/200), and two individuals had a polymorphic allele amplified from exon 2 (1%, 2/200). The anomalous electrophoresis fragment in exon 3 of Nurr1 gene contained a 709C/A missense mutation, and a polymorphic single nucleotide polymorphism at 388G/A was identified in exon 2. Compared with the control group, the Nurr1 gene expression level in the Parkinson's disease group was decreased, and the Nurr1 gene expression levels in Parkinson's disease patients carrying the polymorphisms at exons 2 and 3 were significantly decreased. Our data indicate that the single nucleotide polymorphism 388G/A in exon 2 and the 709C/A missense mutation in exon 3 of the Nurr1 gene in the Chinese population might affect the pathogenesis of Parkinson's disease.

No MeSH data available.


Related in: MedlinePlus

DNA sequencing diagram of 709C/A missense mutations in exon 3 of the Nurr1 gene.
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Figure 1: DNA sequencing diagram of 709C/A missense mutations in exon 3 of the Nurr1 gene.

Mentions: By DNA sequencing, we found that the anomalous electrophoretic fragment in exon 3 of the Nurr1 gene contained a 709C/A missense mutation (Figure 1). This mutation would change the 125th serine into tyrosine, affecting Nurr1 serine phosphorylation. However, further analysis needs to be carried out to determine the effect of the 388G/A polymorphism in exon 2 (Figure 2) on Nurr1 function, as exon 2 is part of the Nurr1 promoter region.


Association of Nurr1 gene mutations with Parkinson's disease in the Han population living in the Hubei province of China.

Lou X, Liao W - Neural Regen Res (2012)

DNA sequencing diagram of 709C/A missense mutations in exon 3 of the Nurr1 gene.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4302528&req=5

Figure 1: DNA sequencing diagram of 709C/A missense mutations in exon 3 of the Nurr1 gene.
Mentions: By DNA sequencing, we found that the anomalous electrophoretic fragment in exon 3 of the Nurr1 gene contained a 709C/A missense mutation (Figure 1). This mutation would change the 125th serine into tyrosine, affecting Nurr1 serine phosphorylation. However, further analysis needs to be carried out to determine the effect of the 388G/A polymorphism in exon 2 (Figure 2) on Nurr1 function, as exon 2 is part of the Nurr1 promoter region.

Bottom Line: Nurr1 defects could in part underlie Parkinson's disease pathogenesis, and Nurr1 gene polymorphism has been found in Caucasian patients with Parkinson's disease.The anomalous electrophoresis fragment in exon 3 of Nurr1 gene contained a 709C/A missense mutation, and a polymorphic single nucleotide polymorphism at 388G/A was identified in exon 2.Our data indicate that the single nucleotide polymorphism 388G/A in exon 2 and the 709C/A missense mutation in exon 3 of the Nurr1 gene in the Chinese population might affect the pathogenesis of Parkinson's disease.

View Article: PubMed Central - PubMed

Affiliation: Department of Rehabilitation Medicine, Zhongnan Hospital, Wuhan University, Wuhan 430071, Hubei Province, China ; Department of Neurology, Fourth Affiliated Hospital, Nanchang University, Nanchang 330003, Jiangxi Province, China.

ABSTRACT
Nurr1 defects could in part underlie Parkinson's disease pathogenesis, and Nurr1 gene polymorphism has been found in Caucasian patients with Parkinson's disease. In this study, heteroduplex technology was applied to compare the DNA sequences of eight exons of Nurr1 among 200 sporadic Parkinson's disease patients and 200 healthy controls in the Han population in the Hubei province, China. One allele amplified from exon 3 of Nurr1 was polymorphic in five Parkinson's disease patients (2.5%, 5/200), and two individuals had a polymorphic allele amplified from exon 2 (1%, 2/200). The anomalous electrophoresis fragment in exon 3 of Nurr1 gene contained a 709C/A missense mutation, and a polymorphic single nucleotide polymorphism at 388G/A was identified in exon 2. Compared with the control group, the Nurr1 gene expression level in the Parkinson's disease group was decreased, and the Nurr1 gene expression levels in Parkinson's disease patients carrying the polymorphisms at exons 2 and 3 were significantly decreased. Our data indicate that the single nucleotide polymorphism 388G/A in exon 2 and the 709C/A missense mutation in exon 3 of the Nurr1 gene in the Chinese population might affect the pathogenesis of Parkinson's disease.

No MeSH data available.


Related in: MedlinePlus