HFE mutations are not strongly associated with sporadic ALS

被引：39

作者：

Yen, AA ^{[1
]}

Simpson, EP ^{[1
]}

Henkel, JS ^{[1
]}

Beers, DR ^{[1
]}

Appel, SH ^{[1
]}

机构：

[1] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA

来源：

NEUROLOGY | 2004年 / 62卷 / 09期

关键词：

D O I：

10.1212/01.WNL.0000123114.04644.CC

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The presence of oxidative damage and increased iron deposition in CNS tissues of ALS patients prompted the authors to examine the prevalence of two common HFE gene mutations linked to iron accumulation and consequent oxidative stress. The prevalence of the C282Y and H63D mutations was nearly identical in 51 ALS patients and 47 normal control subjects. The presence of either mutation did not significantly affect the age at onset or rate of progression in ALS.

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页码：1611 / 1612

页数：2

相关论文

共 10 条

[1] Association study between iron-related genes polymorphisms and Parkinson's disease [J].

Borie, C ;

Gasparini, F ;

Verpillat, P ;

Bonnet, AM ;

Agid, Y ;

Hetet, G ;

Brice, A ;

Dürr, A ;

Grandchamp, B .

JOURNAL OF NEUROLOGY, 2002, 249 (07) :801-804

[2] Contribution of different HFE genotypes to iron overload disease: a pooled analysis [J].

Burke, W ;

Imperatore, G ;

McDonnell, SM ;

Baron, RC ;

Khoury, MJ .

GENETICS IN MEDICINE, 2000, 2 (05) :271-277

[3] The significance of haemochromatosis gene mutations in the general population: implications for screening [J].

Burt, MJ ;

George, PM ;

Upton, JD ;

Collett, JA ;

Frampton, CMA ;

Chapman, TM ;

Walmsley, TA ;

Chapman, BA .

GUT, 1998, 43 (06) :830-836

[4] Neurodegeneration in amyotrophic lateral sclerosis:: the role of oxidative stress and altered homeostasis of metals [J].

Carrì, MT ;

Ferri, A ;

Cozzolino, M ;

Calabrese, L ;

Rotilio, G .

BRAIN RESEARCH BULLETIN, 2003, 61 (04) :365-374

[5] ALUMINUM, CALCIUM, AND IRON IN THE SPINAL-CORD OF PATIENTS WITH SPORADIC AMYOTROPHIC-LATERAL-SCLEROSIS USING LASER MICROPROBE MASS-SPECTROSCOPY - A PRELIMINARY-STUDY [J].

KASARSKIS, EJ ;

TANDON, L ;

LOVELL, MA ;

EHMANN, WD .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1995, 130 (02) :203-208

[6] A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism [J].

Njajou, OT ;

Houwing-Duistermaat, JJ ;

Osborne, RH ;

Vaessen, N ;

Vergeer, J ;

Heeringa, J ;

Pols, HAP ;

Hofman, A ;

van Duijn, CM .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (03) :225-231

[7] Association of HFE mutations with neurodegeneration and oxidative stress in Alzheimer's disease and correlation with APOE [J].

Pulliam, JF ;

Jennings, CD ;

Kryscio, RJ ;

Davis, DG ;

Wilson, D ;

Montine, TJ ;

Schmitt, FA ;

Markesbery, WR .

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2003, 119B (01) :48-53

[8] Iron and dioxygen chemistry is an important route to initiation of biological free radical oxidations: An electron paramagnetic resonance spin trapping study [J].

Qian, SY ;

Buettner, GR .

FREE RADICAL BIOLOGY AND MEDICINE, 1999, 26 (11-12) :1447-1456

[9] Oxidative Stress: a common denominator in the pathogenesis of amyotrophic lateral sclerosis [J].

Simpson, EP ;

Yen, AA ;

Appel, SH .

CURRENT OPINION IN RHEUMATOLOGY, 2003, 15 (06) :730-736

[10] Prevalence of CY282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States [J].

Steinberg, KK ;

Cogswell, ME ;

Chang, JC ;

Caudill, SP ;

McQuillan, GM ;

Bowman, BA ;

Grummer-Strawn, LM ;

Sampson, EJ ;

Khoury, MJ ;

Gallagher, ML .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2001, 285 (17) :2216-2222