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Parkinson’s Disease
Volume 2011, Article ID 827693, 6 pages
http://dx.doi.org/10.4061/2011/827693
Research Article

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

1Genomic Unit for the Diagnosis of Human Pathologies, Center for Genomics, Bioinformatics and Biostatistics, San Raffaele Scientific Institute, 20132 Milan, Italy
2Sezione di Chimica, Facoltà di Medicina, Università di Brescia & Terzo Laboratorio di Analisi Chimico Cliniche, Spedali Civili di Brescia, 25123 Brescia, Italy
3Centro Parkinson e Disturbi del Movimento, Istituti Clinici di Perfezionamento, 20126 Milan, Italy
4Centro della Microcitemia e Anemie Congenite, Ospedale Galliera, 16128 Genova, Italy
5Department of Clinical and Experimental Medicine, Section of Internal Medicine, University of Verona, 37134 Verona, Italy
6Università Vita-Salute San Raffaele, 20132 Milan, Italy
7Diagnostica e Ricerca San Raffaele SpA, Milan, Italy

Received 17 June 2010; Accepted 27 September 2010

Academic Editor: Carlo Colosimo

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.

Abstract

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.