Analysis of ferritin genes in Parkinson disease

Barbara Foglieni, Francesca Ferrari, Stefano Goldwurm, Paolo Santambrogio, Emanuela Castiglioni, Maria Sessa, Maria Antonietta Volontè, Stefania Lalli, Carlo Galli, Xin Sheng Wang, James Connor, Francesca Sironi, Margherita Canesi, Giorgio Biasiotto, Gianni Pezzoli, Sonia Levi, Maurizio Ferrari, Paolo Arosio, Laura Cremonesi

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1450-1456
Number of pages7
JournalClinical Chemistry and Laboratory Medicine
Volume45
Issue number11
DOIs
Publication statusPublished - Nov 11 2007

Keywords

  • Anemia
  • Denaturing high-performance liquid chromatography (DHPLC)
  • Ferritin
  • Parkinson disease

ASJC Scopus subject areas

  • Clinical Biochemistry

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    Foglieni, B., Ferrari, F., Goldwurm, S., Santambrogio, P., Castiglioni, E., Sessa, M., Antonietta Volontè, M., Lalli, S., Galli, C., Wang, X. S., Connor, J., Sironi, F., Canesi, M., Biasiotto, G., Pezzoli, G., Levi, S., Ferrari, M., Arosio, P., & Cremonesi, L. (2007). Analysis of ferritin genes in Parkinson disease. Clinical Chemistry and Laboratory Medicine, 45(11), 1450-1456. https://doi.org/10.1515/CCLM.2007.307