Manganese-containing superoxide dismutase signal sequence polymorphism associated with sporadic motor neuron disease
| Autor: | Gunhild Beckman, Lars Beckman, Peter M. Andersen, Glen Fernand Van Landeghem, Pedram Tabatabaie |
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| Rok vydání: | 1999 |
| Předmět: |
Male
medicine.medical_specialty DNA Mutational Analysis Protein Sorting Signals medicine.disease_cause Superoxide dismutase Internal medicine Genotype Medicine Humans Amyotrophic lateral sclerosis Allele Motor Neuron Disease Alleles Genetics Alanine Polymorphism Genetic biology business.industry Superoxide Dismutase Infant Newborn Valine Odds ratio Motor neuron medicine.disease Confidence interval Endocrinology medicine.anatomical_structure Neurology biology.protein Female Neurology (clinical) business Oxidative stress |
| Zdroj: | European journal of neurology. 6(6) |
| ISSN: | 1351-5101 |
| Popis: | An alanin-9valin (Ala-9Val) polymorphism in the mitochondrial targeting sequence of manganese-containing superoxide dismutase (Mn-SOD) has recently been described. We studied this polymorphism in 72 Swedish patients with sporadic motor neuron diseases (MND) and controls using 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 cellular 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. |
| Databáze: | OpenAIRE |
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