Superoxide dismutase in CSF from amyotrophic lateral sclerosis patients with and without CuZn-superoxide dismutase mutations

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Jacobsson, JohanUmeå universitet,Klinisk neurovetenskap (author)

Superoxide dismutase in CSF from amyotrophic lateral sclerosis patients with and without CuZn-superoxide dismutase mutations

Article/chapterEnglish2001

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Oxford University Press,2001
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LIBRIS-ID:oai:DiVA.org:umu-4749
https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-4749URI
https://doi.org/10.1093/brain/124.7.1461DOI

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Language:English
Summary in:English

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Mutations in CuZn-superoxide dismutase (CuZn-SOD) have been linked to familial amyotrophic lateral sclerosis (ALS), and motor neurone death is caused by the gain of a toxic property of the mutant protein. Here we determined amounts, activity and molecular forms of CuZn-SOD in CSF from ALS patients carrying the D90A and other CuZn-SOD mutations and patients without such mutations. There were no differences in amount of protein and enzymic activities of CuZn-SOD between 37 neurological controls, 54 sporadic and 12 familial ALS cases, and 10 cases homozygous for the D90A mutation. Three cases heterozygous for the A89V, S105L and G114A CuZn-SOD mutations showed low amounts of CuZn-SOD. There was no evidence for accumulation of inactive protein in any of the groups. Immunoblots showed no evidence for the presence of any precipitates or other molecular forms of CuZn-SOD with higher molecular weight in the groups. About 25% of the CuZn-SOD subunits in CSF from controls shows an N-terminal truncation. This truncated portion does not differ between controls and ALS groups not carrying CuZn-SOD mutations, but is 70% larger in samples from D90A homozygous ALS patients. The findings suggest an essentially normal amount and activity of D90A mutant CuZn-SOD in CNS tissues of ALS cases. The increased occurrence of N-terminally truncated mutant subunits may indicate a difference in degradation routes compared with the wild-type enzyme, resistance against subsequent proteolytic steps and/or a compromised downstream proteolytic machinery. Molecular fragments accumulated to a greater extent from the D90A mutant enzyme might contribute to the motor neurone degeneration. We also determined the other SOD isoenzymes: in the controls, CuZn-SOD contributed 75%, extracellular SOD 25% and Mn-SOD <5% of the total SOD activity. There was no difference in the amount of extracellular SOD between any of the groups.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Cell- och molekylärbiologi hsv//swe
MEDICAL AND HEALTH SCIENCES Basic Medicine Cell and Molecular Biology hsv//eng
Amyotrophic lateral sclerosis
Cerebrospinal fluid
Oxygen radicals
Superoxide dismutase

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Jonsson, Andreas P.Umeå universitet,Klinisk kemi(Swepub:umu)aasjon95 (author)
Andersen, Peter M.Umeå universitet,Klinisk neurovetenskap (author)
Forsgren, LarsUmeå universitet,Klinisk neurovetenskap (author)
Marklund, Stefan L.Umeå universitet,Klinisk kemi (author)
Umeå universitetKlinisk neurovetenskap (creator_code:org_t)

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In:Brain: Oxford University Press124:7, s. 1461-14660006-89501460-2156

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