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Analysis of ferritin genes in Parkinson disease
Published/Copyright:
October 31, 2007
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
Received: 2007-5-17
Accepted: 2007-6-30
Published Online: 2007-10-31
Published in Print: 2007-11-01
©2007 by Walter de Gruyter Berlin New York
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Keywords for this article
anemia;
denaturing high-performance liquid chromatography (DHPLC);
ferritin;
Parkinson disease
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