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HFE H63D polymorphism is increased in patients with amyotrophic lateral sclerosis of Italian origin
  1. G Restagno1,
  2. F Lombardo1,
  3. P Ghiglione2,
  4. A Calvo2,
  5. E Cocco3,
  6. L Sbaiz3,
  7. R Mutani4,
  8. A Chiò4
  1. 1Molecular Genetics Unit, Department of Clinical Pathology, Children’s Hospital, Torino, Italy
  2. 2Department of Neuroscience, University of Torino, Torino, Italy
  3. 3Molecular Genetics Unit, Department of Clinical Pathology, Children’s Hospital, Torino, Italy
  4. 4Department of Neuroscience, University of Torino, Torino, Italy
  1. Correspondence to:
 Professor A Chiò
 Department of Neuroscience, University of Turin, via Cherasco 15, Torino 10126, Italy; adriano.chio{at}unito.it

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A role for metal-mediated oxidative stress in the pathogenesis of amyotrophic lateral sclerosis (ALS) was proposed in 1994 in the first studies of familial ALS mutant superoxide dismutase 1, and interference with iron homoeostasis is now postulated.1 The HFE gene on chromosome 6 is a mean corpuscular haemoglobin class I-like molecule related to iron regulation. Mutations in the coding region cause hereditary haemochromatosis, a common autosomal recessive disorder of iron metabolism that leads to iron overload in adulthood. Recent reports on HFE mutations in ALS showed contradictory results. Two studies described a higher prevalence of the HFE mutations in ALS than in the control group, and one study did not find any difference between the patients with ALS and the control group.2–4 We analysed a series of Italian patients with ALS to investigate whether mutations in the HFE gene could represent a risk factor for ALS.

A total of 149 sporadic Italian patients with ALS (mean (standard deviation (SD)) age 59.4 (9.7) years) according to El Escorial criteria for clinically definite or probable ALS were consecutively recruited to this study. Control samples were obtained from 168 healthy people, matched by age (difference of 5 years), sex and …

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