Analysis of ferritin genes in Parkinson disease.
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.
Foglieni
Barbara
B
Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy.
Ferrari
Francesca
F
Goldwurm
Stefano
S
Santambrogio
Paolo
P
Castiglioni
Emanuela
E
Sessa
Maria
M
Volontè
Maria Antonietta
MA
Lalli
Stefania
S
Galli
Carlo
C
Wang
Xin-Sheng
XS
Connor
James
J
Sironi
Francesca
F
Canesi
Margherita
M
Biasiotto
Giorgio
G
Pezzoli
Gianni
G
Levi
Sonia
S
Ferrari
Maurizio
M
Arosio
Paolo
P
Cremonesi
Laura
L
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
D017931:DNA Primers; D005293:Ferritins