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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| Format: | Article |
| Language: | English |
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Wiley
2011-01-01
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| Series: | Parkinson's Disease |
| Online Access: | http://dx.doi.org/10.4061/2011/827693 |
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| author | Emanuela Castiglioni Dario Finazzi Stefano Goldwurm Gianni Pezzoli Gianluca Forni Domenico Girelli Federica Maccarinelli Maura Poli Maurizio Ferrari Laura Cremonesi Paolo Arosio |
| author_facet | Emanuela Castiglioni Dario Finazzi Stefano Goldwurm Gianni Pezzoli Gianluca Forni Domenico Girelli Federica Maccarinelli Maura Poli Maurizio Ferrari Laura Cremonesi Paolo Arosio |
| author_sort | Emanuela Castiglioni |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-b80c7e527ec34e32af6b179218225b2a |
| institution | Kabale University |
| issn | 2042-0080 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Parkinson's Disease |
| spelling | doaj-art-b80c7e527ec34e32af6b179218225b2a2025-02-03T01:33:02ZengWileyParkinson's Disease2042-00802011-01-01201110.4061/2011/827693827693Analysis of Nucleotide Variations in Genes of Iron Management in Patients of Parkinson's Disease and Other Movement DisordersEmanuela Castiglioni0Dario Finazzi1Stefano Goldwurm2Gianni Pezzoli3Gianluca Forni4Domenico Girelli5Federica Maccarinelli6Maura Poli7Maurizio Ferrari8Laura Cremonesi9Paolo Arosio10Genomic Unit for the Diagnosis of Human Pathologies, Center for Genomics, Bioinformatics and Biostatistics, San Raffaele Scientific Institute, 20132 Milan, ItalySezione di Chimica, Facoltà di Medicina, Università di Brescia & Terzo Laboratorio di Analisi Chimico Cliniche, Spedali Civili di Brescia, 25123 Brescia, ItalyCentro Parkinson e Disturbi del Movimento, Istituti Clinici di Perfezionamento, 20126 Milan, ItalyCentro Parkinson e Disturbi del Movimento, Istituti Clinici di Perfezionamento, 20126 Milan, ItalyCentro della Microcitemia e Anemie Congenite, Ospedale Galliera, 16128 Genova, ItalyDepartment of Clinical and Experimental Medicine, Section of Internal Medicine, University of Verona, 37134 Verona, ItalySezione di Chimica, Facoltà di Medicina, Università di Brescia & Terzo Laboratorio di Analisi Chimico Cliniche, Spedali Civili di Brescia, 25123 Brescia, ItalySezione di Chimica, Facoltà di Medicina, Università di Brescia & Terzo Laboratorio di Analisi Chimico Cliniche, Spedali Civili di Brescia, 25123 Brescia, ItalyGenomic Unit for the Diagnosis of Human Pathologies, Center for Genomics, Bioinformatics and Biostatistics, San Raffaele Scientific Institute, 20132 Milan, ItalyGenomic Unit for the Diagnosis of Human Pathologies, Center for Genomics, Bioinformatics and Biostatistics, San Raffaele Scientific Institute, 20132 Milan, ItalySezione di Chimica, Facoltà di Medicina, Università di Brescia & Terzo Laboratorio di Analisi Chimico Cliniche, Spedali Civili di Brescia, 25123 Brescia, ItalyThe 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.http://dx.doi.org/10.4061/2011/827693 |
| spellingShingle | Emanuela Castiglioni Dario Finazzi Stefano Goldwurm Gianni Pezzoli Gianluca Forni Domenico Girelli Federica Maccarinelli Maura Poli Maurizio Ferrari Laura Cremonesi Paolo Arosio Analysis of Nucleotide Variations in Genes of Iron Management in Patients of Parkinson's Disease and Other Movement Disorders Parkinson's Disease |
| 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 |
| url | http://dx.doi.org/10.4061/2011/827693 |
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