title: Analysis of nucleotide variations in genes of iron management in patients of Parkinson's disease and other movement disorders.
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.
authors.affiliation: Genomic Unit for the Diagnosis of Human Pathologies, Center for Genomics, Bioinformatics and Biostatistics, San Raffaele Scientific Institute, 20132 Milan, Italy.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Castiglioni
authors.forename: Dario
authors.initials: D
authors.lastname: Finazzi
authors.forename: Stefano
authors.initials: S
authors.lastname: Goldwurm
authors.forename: Gianni
authors.initials: G
authors.lastname: Pezzoli
authors.forename: Gianluca
authors.initials: G
authors.lastname: Forni
authors.forename: Domenico
authors.initials: D
authors.lastname: Girelli
authors.forename: Federica
authors.initials: F
authors.lastname: Maccarinelli
authors.forename: Maura
authors.initials: M
authors.lastname: Poli
authors.forename: Maurizio
authors.initials: M
authors.lastname: Ferrari
authors.forename: Laura
authors.initials: L
authors.lastname: Cremonesi
authors.forename: Paolo
authors.initials: P
authors.lastname: Arosio