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- Title
Analysis of ferritin genes in Parkinson disease.
- Authors
Foglieni, Barbara; Ferrari, Francesca; Goldwurm, Stefano; Santambrogio, Paolo; Castiglioni, Emanuela; Sessa, Maria; Volontè, Maria Antonietta; Lalli, Stefania; Galli, Carlo; Xin-Sheng Wang; Connor, James; Sironi, Francesca; Canesi, Margherita; Biasiotto, Giorgio; Pezzoli, Gianni; Levi, Sonia; Ferrari, Maurizio; Arosio, Paolo; Cremonesi, Laura
- 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.
- Subjects
ANEMIA; FERRITIN; IRON proteins; IRON in the body; PARKINSON'S disease; HIGH performance liquid chromatography
- Publication
Clinical Chemistry & Laboratory Medicine, 2007, Vol 45, Issue 11, p1450
- ISSN
1434-6621
- Publication type
Article
- DOI
10.1515/CCLM.2007.307