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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Greaves, Ronda / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter


IMPACT FACTOR 2018: 3.638

CiteScore 2018: 2.44

SCImago Journal Rank (SJR) 2018: 1.191
Source Normalized Impact per Paper (SNIP) 2018: 1.205

Online
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1437-4331
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Volume 45, Issue 11

Issues

Analysis of ferritin genes in Parkinson disease

Barbara Foglieni
  • 1Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy
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/ Francesca Ferrari
  • 2Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy
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/ Stefano Goldwurm / Paolo Santambrogio / Emanuela Castiglioni
  • 5Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy
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/ Maria Sessa
  • 6Unit of Neurology, Neurophysiology and Neuro-rehabilitation, San Raffaele Scientific Institute, Milan, Italy
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/ Maria Antonietta Volontè
  • 7Unit of Neurology, Neurophysiology and Neuro-rehabilitation, San Raffaele Scientific Institute, Milan, Italy
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/ Stefania Lalli
  • 8Unit of Neurology, Neurophysiology and Neuro-rehabilitation, San Raffaele Scientific Institute, Milan, Italy
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/ Carlo Galli
  • 9Department of Pathology, Cytology and Cytogenetics, Niguarda Ca' Granda Hospital, Milan, Italy
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/ Xin-Sheng Wang
  • 10Department of Neurosurgery, Penn State University, M.S. Hershey Medical Center, Hershey, PA, USA
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/ James Connor
  • 11Department of Neurosurgery, Penn State University, M.S. Hershey Medical Center, Hershey, PA, USA
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/ Francesca Sironi
  • 12Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy and Molecular Genetics Laboratory, Foundation “Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena”, Milan, Italy
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/ Margherita Canesi / Giorgio Biasiotto
  • 14Dipartimento Materno Infantile e Tecnologie Biomediche, University of Brescia, A.O. Spedali Civili, Brescia, Italy
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/ Gianni Pezzoli / Sonia Levi
  • 16Unit of Proteomics of Iron Metabolism, San Raffaele Scientific Institute, Milan, Italy and Università Vita-Salute San Raffaele, Milan, Italy
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/ Maurizio Ferrari
  • 17Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy, Università Vita-Salute San Raffaele, Milan, Italy and Diagnostica e Ricerca San Raffaele S.p.A, Milan, Italy
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/ Paolo Arosio
  • 18Dipartimento Materno Infantile e Tecnologie Biomediche, University of Brescia, A.O. Spedali Civili, Brescia, Italy
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/ Laura Cremonesi
  • 19Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy and Diagnostica e Ricerca San Raffaele S.p.A, Milan, Italy
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Published Online: 2007-10-31 | DOI: https://doi.org/10.1515/CCLM.2007.307

Abstract

Background: Genes that regulate iron metabolism may be involved in increasing brain iron content in Parkinson disease (PD). The ferritin L-chain is one of these genes, but the rare insertional mutations that cause neuroferritinopathy with basal ganglia degeneration have not yet been identified in PD.

Methods: We used denaturing HPLC (DHPLC) to investigate 124 PD patients and 180 controls for variations in the coding and in the 5′ untranslated regions of the H- and L-ferritin genes.

Results: In the H-ferritin gene, we found one new and rather common intronic polymorphism and the K54R substitution in two controls. The L-ferritin gene showed a very common L55L polymorphism and four other types of DNA variations, three of which were in the patient cohort. A mutation of the conserved His133 to Pro was found in a PD patient and in his daughter. The patient did not show signs of neuroferritinopathy, but the mutation was associated with low L-ferritin levels and with mild chronic anemia.

Conclusions: The results support the hypothesis that DNA variations in the ferritin genes are not a common cause for PD.

Clin Chem Lab Med 2007;45:1450–6.

Keywords: anemia; denaturing high-performance liquid chromatography (DHPLC); ferritin; Parkinson disease

About the article

Corresponding author: Prof. Paolo Arosio, PhD, Dipartimento Materno Infantile e Tecnologie Biomediche, Università di Brescia, Viale Europa 11, 25123 Brescia, Italy Phone: +39-030-394-386, Fax: +39-030-307-251,


Received: 2007-05-17

Accepted: 2007-06-30

Published Online: 2007-10-31

Published in Print: 2007-11-01


Citation Information: Clinical Chemical Laboratory Medicine, Volume 45, Issue 11, Pages 1450–1456, ISSN (Online) 14374331, ISSN (Print) 14346621, DOI: https://doi.org/10.1515/CCLM.2007.307.

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