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.
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 PDpatients 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 PDpatient 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: Qi Xu; Yang Chen; Yang Zhang; Yi Yu Tong; Zheng Yang Huang; Wen Ming Zhao; Xiu Jun Duan; Xiu Li; Guo Bin Chang; Guo Hong Chen Journal: Mol Biol Rep Date: 2014-07-01 Impact factor: 2.316
Authors: R Savica; B R Grossardt; J M Carlin; M Icen; J H Bower; J E Ahlskog; D M Maraganore; D P Steensma; W A Rocca Journal: Neurology Date: 2009-10-27 Impact factor: 9.910