Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Iron overload increases oxidative stress and may lead to neurodegenerative disease like Parkinson's disease (PD). We studied the role of mutations in the hemochromatosis gene HFE in PD and other parkinsonism (non-PD PS) in two population-based series. The first series consisted of 137 patients with PD and 47 with non-PD PS, and the second of 60 patients with PD and 25 with non-PD PS. In the first series, PD patients were significantly more often homozygous for the C282Y mutation than controls (P=0.03). Patients with non-PD PS in both series were more often carriers for the C282Y mutation than controls (P=0.009, P=0.006, respectively). Our data are hampered by small numbers, yet suggest that the C282Y mutation increases the risk of PD and non-PD PS. The rarity of this genotype requires a large series of patients to prove our hypothesis.

Original publication

DOI

10.1016/s0304-3940(03)00713-4

Type

Journal article

Journal

Neurosci Lett

Publication Date

11/09/2003

Volume

348

Pages

117 - 119

Keywords

Aged, DNA Mutational Analysis, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Testing, Genotype, Hemochromatosis, Hemochromatosis Protein, Heterozygote, Histocompatibility Antigens Class I, Homozygote, Humans, Iron, Male, Membrane Proteins, Middle Aged, Mutation, Neurons, Oxidative Stress, Parkinson Disease, Parkinsonian Disorders, Substantia Nigra