title: Analysis of ferritin genes in Parkinson disease.
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.
authors.affiliation: Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Foglieni
authors.forename: Francesca
authors.initials: F
authors.lastname: Ferrari
authors.forename: Stefano
authors.initials: S
authors.lastname: Goldwurm
authors.forename: Paolo
authors.initials: P
authors.lastname: Santambrogio
authors.forename: Emanuela
authors.initials: E
authors.lastname: Castiglioni
authors.forename: Maria
authors.initials: M
authors.lastname: Sessa
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Volontè
authors.forename: Stefania
authors.initials: S
authors.lastname: Lalli
authors.forename: Carlo
authors.initials: C
authors.lastname: Galli
authors.forename: Xin-Sheng
authors.initials: XS
authors.lastname: Wang
authors.forename: James
authors.initials: J
authors.lastname: Connor
authors.forename: Francesca
authors.initials: F
authors.lastname: Sironi
authors.forename: Margherita
authors.initials: M
authors.lastname: Canesi
authors.forename: Giorgio
authors.initials: G
authors.lastname: Biasiotto
authors.forename: Gianni
authors.initials: G
authors.lastname: Pezzoli
authors.forename: Sonia
authors.initials: S
authors.lastname: Levi
authors.forename: Maurizio
authors.initials: M
authors.lastname: Ferrari
authors.forename: Paolo
authors.initials: P
authors.lastname: Arosio
authors.forename: Laura
authors.initials: L
authors.lastname: Cremonesi
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D017931:DNA Primers; D005293:Ferritins / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D008875:Middle Aged; D016296:Mutagenesis; D010300:Parkinson Disease / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D017931:DNA Primers; D005293:Ferritins