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Analysis of Nucleotide Variations in Genes of Iron Management in Patients of Parkinson's Disease and Other Movement Disorders

The capacity to act as an electron donor and acceptor makes iron an essential cofactor of many vital processes. Its balance in the body has to be tightly regulated since its excess can be harmful by favouring oxidative damage, while its deficiency can impair fundamental activities like erythropoiesi...

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Autores principales: Castiglioni, Emanuela, Finazzi, Dario, Goldwurm, Stefano, Pezzoli, Gianni, Forni, Gianluca, Girelli, Domenico, Maccarinelli, Federica, Poli, Maura, Ferrari, Maurizio, Cremonesi, Laura, Arosio, Paolo
Formato: Texto
Lenguaje:English
Publicado: SAGE-Hindawi Access to Research 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957853/
https://www.ncbi.nlm.nih.gov/pubmed/20981230
http://dx.doi.org/10.4061/2011/827693
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author Castiglioni, Emanuela
Finazzi, Dario
Goldwurm, Stefano
Pezzoli, Gianni
Forni, Gianluca
Girelli, Domenico
Maccarinelli, Federica
Poli, Maura
Ferrari, Maurizio
Cremonesi, Laura
Arosio, Paolo
author_facet Castiglioni, Emanuela
Finazzi, Dario
Goldwurm, Stefano
Pezzoli, Gianni
Forni, Gianluca
Girelli, Domenico
Maccarinelli, Federica
Poli, Maura
Ferrari, Maurizio
Cremonesi, Laura
Arosio, Paolo
author_sort Castiglioni, Emanuela
collection PubMed
description The capacity to act as an electron donor and acceptor makes iron an essential cofactor of many vital processes. Its balance in the body has to be tightly regulated since its excess can be harmful by favouring oxidative damage, while its deficiency can impair fundamental activities like erythropoiesis. In the brain, an accumulation of iron or an increase in its availability has been associated with the development and/or progression of different degenerative processes, including Parkinson's disease, while iron paucity seems to be associated with cognitive deficits, motor dysfunction, and restless legs syndrome. In the search of DNA sequence variations affecting the individual predisposition to develop movement disorders, we scanned by DHPLC the exons and intronic boundary regions of ceruloplasmin, iron regulatory protein 2, hemopexin, hepcidin and hemojuvelin genes in cohorts of subjects affected by Parkinson's disease and idiopathic neurodegeneration with brain iron accumulation (NBIA). Both novel and known sequence variations were identified in most of the genes, but none of them seemed to be significantly associated to the movement diseases of interest.
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spelling pubmed-29578532010-10-27 Analysis of Nucleotide Variations in Genes of Iron Management in Patients of Parkinson's Disease and Other Movement Disorders Castiglioni, Emanuela Finazzi, Dario Goldwurm, Stefano Pezzoli, Gianni Forni, Gianluca Girelli, Domenico Maccarinelli, Federica Poli, Maura Ferrari, Maurizio Cremonesi, Laura Arosio, Paolo Parkinsons Dis Research Article The capacity to act as an electron donor and acceptor makes iron an essential cofactor of many vital processes. Its balance in the body has to be tightly regulated since its excess can be harmful by favouring oxidative damage, while its deficiency can impair fundamental activities like erythropoiesis. In the brain, an accumulation of iron or an increase in its availability has been associated with the development and/or progression of different degenerative processes, including Parkinson's disease, while iron paucity seems to be associated with cognitive deficits, motor dysfunction, and restless legs syndrome. In the search of DNA sequence variations affecting the individual predisposition to develop movement disorders, we scanned by DHPLC the exons and intronic boundary regions of ceruloplasmin, iron regulatory protein 2, hemopexin, hepcidin and hemojuvelin genes in cohorts of subjects affected by Parkinson's disease and idiopathic neurodegeneration with brain iron accumulation (NBIA). Both novel and known sequence variations were identified in most of the genes, but none of them seemed to be significantly associated to the movement diseases of interest. SAGE-Hindawi Access to Research 2010-10-17 /pmc/articles/PMC2957853/ /pubmed/20981230 http://dx.doi.org/10.4061/2011/827693 Text en Copyright © 2011 Emanuela Castiglioni et al. 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.
spellingShingle Research Article
Castiglioni, Emanuela
Finazzi, Dario
Goldwurm, Stefano
Pezzoli, Gianni
Forni, Gianluca
Girelli, Domenico
Maccarinelli, Federica
Poli, Maura
Ferrari, Maurizio
Cremonesi, Laura
Arosio, Paolo
Analysis of Nucleotide Variations in Genes of Iron Management in Patients of Parkinson's Disease and Other Movement Disorders
title Analysis of Nucleotide Variations in Genes of Iron Management in Patients of Parkinson's Disease and Other Movement Disorders
title_full Analysis of Nucleotide Variations in Genes of Iron Management in Patients of Parkinson's Disease and Other Movement Disorders
title_fullStr Analysis of Nucleotide Variations in Genes of Iron Management in Patients of Parkinson's Disease and Other Movement Disorders
title_full_unstemmed Analysis of Nucleotide Variations in Genes of Iron Management in Patients of Parkinson's Disease and Other Movement Disorders
title_short Analysis of Nucleotide Variations in Genes of Iron Management in Patients of Parkinson's Disease and Other Movement Disorders
title_sort analysis of nucleotide variations in genes of iron management in patients of parkinson's disease and other movement disorders
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957853/
https://www.ncbi.nlm.nih.gov/pubmed/20981230
http://dx.doi.org/10.4061/2011/827693
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