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

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 Parki...

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Autores principales: Lou, Xiaoliang, Liao, Weijing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302528/
https://www.ncbi.nlm.nih.gov/pubmed/25624803
http://dx.doi.org/10.3969/j.issn.1673-5374.2012.23.005
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author Lou, Xiaoliang
Liao, Weijing
author_facet Lou, Xiaoliang
Liao, Weijing
author_sort Lou, Xiaoliang
collection PubMed
description 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.
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spelling pubmed-43025282015-01-26 Association of Nurr1 gene mutations with Parkinson's disease in the Han population living in the Hubei province of China☆ Lou, Xiaoliang Liao, Weijing Neural Regen Res Research and Report: Neurodegenerative Disease and Neural Regeneration 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. Medknow Publications & Media Pvt Ltd 2012-08-15 /pmc/articles/PMC4302528/ /pubmed/25624803 http://dx.doi.org/10.3969/j.issn.1673-5374.2012.23.005 Text en Copyright: © Neural Regeneration Research http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research and Report: Neurodegenerative Disease and Neural Regeneration
Lou, Xiaoliang
Liao, Weijing
Association of Nurr1 gene mutations with Parkinson's disease in the Han population living in the Hubei province of China☆
title Association of Nurr1 gene mutations with Parkinson's disease in the Han population living in the Hubei province of China☆
title_full Association of Nurr1 gene mutations with Parkinson's disease in the Han population living in the Hubei province of China☆
title_fullStr Association of Nurr1 gene mutations with Parkinson's disease in the Han population living in the Hubei province of China☆
title_full_unstemmed Association of Nurr1 gene mutations with Parkinson's disease in the Han population living in the Hubei province of China☆
title_short Association of Nurr1 gene mutations with Parkinson's disease in the Han population living in the Hubei province of China☆
title_sort association of nurr1 gene mutations with parkinson's disease in the han population living in the hubei province of china☆
topic Research and Report: Neurodegenerative Disease and Neural Regeneration
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302528/
https://www.ncbi.nlm.nih.gov/pubmed/25624803
http://dx.doi.org/10.3969/j.issn.1673-5374.2012.23.005
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