Clinical chemistry and laboratory medicine · 2007
Analysis of ferritin genes in Parkinson disease.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Foglieni Barbara, Ferrari Francesca, Goldwurm Stefano, Santambrogio Paolo, Castiglioni Emanuela, Sessa Maria, Volontè Maria Antonietta, Lalli Stefania, Galli Carlo, Wang Xin-Sheng, Connor James, Sironi Francesca, Canesi Margherita, Biasiotto Giorgio, Pezzoli Gianni, Levi Sonia, Ferrari Maurizio, Arosio Paolo, Cremonesi Laura
Аннотация
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.
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.