[HTML][HTML] Novel antibodies reveal inclusions containing non-native SOD1 in sporadic ALS patients

K Forsberg, PA Jonsson, PM Andersen, D Bergemalm… - PloS one, 2010 - journals.plos.org
K Forsberg, PA Jonsson, PM Andersen, D Bergemalm, KS Graffmo, M Hultdin, J Jacobsson…
PloS one, 2010journals.plos.org
Mutations in CuZn-superoxide dismutase (SOD1) cause amyotrophic lateral sclerosis (ALS)
and are found in 6% of ALS patients. Non-native and aggregation-prone forms of mutant
SOD1s are thought to trigger the disease. Two sets of novel antibodies, raised in rabbits and
chicken, against peptides spaced along the human SOD1 sequence, were by enzyme-
linked immunosorbent assay and an immunocapture method shown to be specific for
denatured SOD1. These were used to examine SOD1 in spinal cords of ALS patients lacking …
Mutations in CuZn-superoxide dismutase (SOD1) cause amyotrophic lateral sclerosis (ALS) and are found in 6% of ALS patients. Non-native and aggregation-prone forms of mutant SOD1s are thought to trigger the disease. Two sets of novel antibodies, raised in rabbits and chicken, against peptides spaced along the human SOD1 sequence, were by enzyme-linked immunosorbent assay and an immunocapture method shown to be specific for denatured SOD1. These were used to examine SOD1 in spinal cords of ALS patients lacking mutations in the enzyme. Small granular SOD1-immunoreactive inclusions were found in spinal motoneurons of all 37 sporadic and familial ALS patients studied, but only sparsely in 3 of 28 neurodegenerative and 2 of 19 non-neurological control patients. The granular inclusions were by confocal microscopy found to partly colocalize with markers for lysosomes but not with inclusions containing TAR DNA binding protein-43, ubiquitin or markers for endoplasmic reticulum, autophagosomes or mitochondria. Granular inclusions were also found in carriers of SOD1 mutations and in spinobulbar muscular atrophy (SBMA) patients and they were the major type of inclusion detected in ALS patients homozygous for the wild type-like D90A mutation. The findings suggest that SOD1 may be involved in ALS pathogenesis in patients lacking mutations in the enzyme.
PLOS