Journal
NEUROBIOLOGY OF DISEASE
Volume 36, Issue 3, Pages 421-424Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.nbd.2009.08.006
Keywords
Activity; ALS; Amyotrophic lateral sclerosis; Superoxide dismutase; D90A; Peripheral organs; Protective factor; Recessive; SOD1, Tissue
Categories
Funding
- Swedish Science Council [K2007-61X-125666-10-3, K2009-63X-21141-01-3, K2007-63X20397-01-3]
- Brain Fund/HAllsten Fund
- Swedish Medical Society/the Bjorklund Fund for ALS Research
- Torsten and Ragnar Soderberg Foundation
- Kempe Foundation
- Swedish Association of Persons with Neurological Disabilities
- King Gustaf V and Queen Victoria Fund
- Vasterbotten County Council
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The most common of the amyotrophic lateral sclerosis (ALS)-associated superoxide dismutase-1 (SOD1) mutations, D90A, differs from others in its high structural stability and by the existence of both recessive and dominant inheritance. Here SOD1 in CNS and peripheral organs from five ALS patients homozygous for D90A were compared to controls. In most areas, including ventral horns, there were no significant differences in SOD1 activities and Western blotting patterns between controls and D90A cases. The SOD1 activities in areas vulnerable to mutant SOD1s, ventral horns and precentral gyrus were intermediate among CNS areas and much lower than in kidney and liver. Thus, the vulnerability of motor areas is not explained by high SOD1 content. The findings argue against the idea of expression-reducing protective factors being present near the D90A locus in recessive pedigrees. The similarity to wild-type SOD1 prompts speculations on the involvement of the latter in sporadic ALS. (C) 2009 Elsevier Inc. All rights reserved.
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