Literature DB >> 12902032

Mutations in the hemochromatosis gene (HFE), Parkinson's disease and parkinsonism.

Marieke C J Dekker1, Patricia C Giesbergen, Omer T Njajou, John C van Swieten, Albert Hofman, Monique M B Breteler, Cornelia M van Duijn.   

Abstract

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.

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Year:  2003        PMID: 12902032     DOI: 10.1016/s0304-3940(03)00713-4

Source DB:  PubMed          Journal:  Neurosci Lett        ISSN: 0304-3940            Impact factor:   3.046


  24 in total

1.  A case of hereditary haemochromatosis in a patient with extrapyramidal syndrome.

Authors:  Angelo Rosana; Lucia La Rosa
Journal:  Blood Transfus       Date:  2007-11       Impact factor: 3.443

Review 2.  Genetics of iron regulation and the possible role of iron in Parkinson's disease.

Authors:  Shannon L Rhodes; Beate Ritz
Journal:  Neurobiol Dis       Date:  2008-07-11       Impact factor: 5.996

Review 3.  The role of environmental exposures in neurodegeneration and neurodegenerative diseases.

Authors:  Jason R Cannon; J Timothy Greenamyre
Journal:  Toxicol Sci       Date:  2011-09-13       Impact factor: 4.849

4.  Mutant HFE H63D protein is associated with prolonged endoplasmic reticulum stress and increased neuronal vulnerability.

Authors:  Yiting Liu; Sang Y Lee; Elizabeth Neely; Wint Nandar; Mthabisi Moyo; Zachary Simmons; James R Connor
Journal:  J Biol Chem       Date:  2011-02-24       Impact factor: 5.157

5.  Prevalence of haemochromatosis gene mutations in Parkinson's disease.

Authors:  Anne Hege Aamodt; Lars Jacob Stovner; Ketil Thorstensen; Stian Lydersen; Linda R White; Jan O Aasly
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-10-20       Impact factor: 10.154

6.  Dynamics of tyrosine hydroxylase mediated regulation of dopamine synthesis.

Authors:  Poorvi Kaushik; Fredric Gorin; Shireen Vali
Journal:  J Comput Neurosci       Date:  2007-04       Impact factor: 1.621

7.  Association study between four polymorphisms in the HFE, TF and TFR genes and Parkinson's disease in southern Italy.

Authors:  Valentina Greco; Elvira Valeria De Marco; Francesca Emanuela Rocca; Ferdinanda Annesi; Donatella Civitelli; Giovanni Provenzano; Patrizia Tarantino; Vittorio Scornaienchi; Franco Pucci; Maria Salsone; Fabiana Novellino; Maurizio Morelli; Sandra Paglionico; Antonio Gambardella; Aldo Quattrone; Grazia Annesi
Journal:  Neurol Sci       Date:  2011-03-08       Impact factor: 3.307

8.  Investigations of differences in iron oxidation state inside single neurons from substantia nigra of Parkinson's disease and control patients using the micro-XANES technique.

Authors:  Joanna Chwiej; Dariusz Adamek; Magdalena Szczerbowska-Boruchowska; Anna Krygowska-Wajs; Slawomir Wojcik; Gerald Falkenberg; Anna Manka; Marek Lankosz
Journal:  J Biol Inorg Chem       Date:  2006-11-21       Impact factor: 3.358

9.  Effects of hemochromatosis and transferrin gene mutations on peripheral iron dyshomeostasis in mild cognitive impairment and Alzheimer's and Parkinson's diseases.

Authors:  S Mariani; M Ventriglia; I Simonelli; G Spalletta; S Bucossi; M Siotto; F Assogna; J M Melgari; F Vernieri; R Squitti
Journal:  Front Aging Neurosci       Date:  2013-08-05       Impact factor: 5.750

10.  Hepcidin expression in mouse retina and its regulation via lipopolysaccharide/Toll-like receptor-4 pathway independent of Hfe.

Authors:  Jaya P Gnana-Prakasam; Pamela M Martin; Barbara A Mysona; Penny Roon; Sylvia B Smith; Vadivel Ganapathy
Journal:  Biochem J       Date:  2008-04-01       Impact factor: 3.857

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