HFE mutations are not strongly associated with sporadic ALS.
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.
Yen
A A
AA
Department of Neurology, Baylor College of Medicine, Houston, TX, USA.
Simpson
E P
EP
Henkel
J S
JS
Beers
D R
DR
Appel
S H
SH
D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D018384:Oxidative Stress / Q000235:genetics; D012307:Risk Factors