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Manganese‐containing superoxide dismutase signal sequence polymorphism associated with sporadic motor neuron disease
Author(s) -
Landeghem Glen Fernand,
Tabatabaie Pedram,
Beckman Gunhild,
Beckman Lars,
Andersen Peter Munch
Publication year - 1999
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1046/j.1468-1331.1999.660639.x
Subject(s) - odds ratio , amyotrophic lateral sclerosis , medicine , genotype , superoxide dismutase , gastroenterology , confidence interval , allele , motor neurone disease , motor neuron , endocrinology , genetics , oncology , disease , biology , gene , oxidative stress
An alanin‐9valin (Ala‐Val) polymorphism in the mitochondrial targeting sequence of managanese‐containing superoxide dismutase (Mn‐SOD) has recently been described. We studied this polymorphism in 72 Swedish paients with sporadic motor neuron diseases (MND) and controls unsing an oligonucleotide ligation assay. There were significant differences in genotype between MND patients and controls ( P = 0.025), and between male and female MND patients ( P = 0.009). Individuals homozygous for the Ala allele had a higher risk for MND [odds ratio, 2.9; 95% confidence interval (CI), 1.3–6.6], which was increased when including only females in the analysis (odds ratio, 5.0; 95% CI, 1.8–14.0). In classical amyotrophic lateral sclerosis, the odds ratio was 3.8 (95% CI, 1.3–10.0), and 5.5 (95% CI, 1.5–19.9) when including only females. The results suggest that mutations influencing the allocation of Mn‐SOD may be a risk factor in MND, especially in females, and that MND may be a disease of misdistribution of the superoxide dismutase enzymes.