Inclusions of amyotrophic lateral sclerosis-linked superoxide dismutase in ventral horns, liver, and kidney.
Mutant superoxide dismutases type 1 (SOD1s) cause amyotrophic lateral sclerosis by an unidentified toxic property. In a patient carrying the G127X truncation mutation, minute amounts of SOD1 were found in ventral horns using a mutant-specific antibody. Still, both absolute levels and ratios versus wild-type SOD1 were considerably greater than in other central nervous system areas and peripheral organs. Inclusions of mutant SOD1 were abundant in motoneurons but were also seen in hepatocytes and kidney epithelium. This first examination of mutant SOD1 in both central nervous system and peripheral organs supports the notion that enrichment of misfolded SOD1s might explain the particular vulnerability of motor areas.
Jonsson
P Andreas
PA
Department of Medical Biosciences, Clinical Chemistry, Umeå University, Umeå, Sweden.
Bergemalm
Daniel
D
Andersen
Peter M
PM
Gredal
Ole
O
Brännström
Thomas
T
Marklund
Stefan L
SL
D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D000870:Anterior Horn Cells / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000201:enzymology* / Q000473:pathology; D008099:Liver / Q000201:enzymology* / Q000473:pathology; D009154:Mutation; D009928:Organ Specificity; D013482:Superoxide Dismutase / Q000235:genetics* / Q000378:metabolism*; D000072105:Superoxide Dismutase-1; D014018:Tissue Distribution
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1