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Mutant superoxide d...
Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS
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- Synofzik, M. (författare)
- Department of Neurodegenerative Diseases, University of Tübingen, Germany,Department of Medical Biosciences, Umeå University
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- Ronchi, D. (författare)
- Dino Ferrari Center, Department of Neurological Sciences, University of Milan, Italy
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- Keskin, Isil (författare)
- Umeå universitet,Klinisk neurovetenskap,Institute of Pharmacology and Clinical Neuroscience, Umeå University
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- Basak, A.N. (författare)
- Department of Molecular Biology and Genetics, Neurodegeneration Research Laboratory, Bogazici University, Istanbul, Turkey
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- Wilhelm, C. (författare)
- CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany
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- Gobbi, C. (författare)
- Neurocenter of Southern Switzerland, Ospedale Regionale, Lugano Switzerland
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- Birve, Anna (författare)
- Umeå universitet,Klinisk neurovetenskap,Institute of Pharmacology and Clinical Neuroscience, Umeå University
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- Biskup, S. (författare)
- Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Germany
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- Zecca, C. (författare)
- Neurocenter of Southern Switzerland, Ospedale Regionale, Lugano, Switzerland
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- Fernandez-Santiago, R. (författare)
- Fernández-Santiago, R., Department of Neurodegenerative Diseases,Tübingen, Germany
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- Kaugesaar, Toomas (författare)
- Östergötlands Läns Landsting,Medicinkliniken ViN
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- Schols, L. (författare)
- Schöls, L., German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany
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- Marklund, Stefan L. (författare)
- Umeå universitet,Klinisk kemi
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- Andersen, Peter M. (författare)
- Umeå universitet,Klinisk neurovetenskap,Institute of Pharmacology and Clinical Neuroscience, Umeå University
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(creator_code:org_t)
- 2012-05-16
- 2012
- Engelska.
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP): Policy B - Oxford Open Option B. - 0964-6906 .- 1460-2083. ; 21:16, s. 3568-3574
- Relaterad länk:
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https://academic.oup...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- A reason for screening amyotrophic lateral sclerosis (ALS) patients for mutations in the superoxide dismutase-1 (SOD1) gene is the opportunity to find novel mutations with properties that can give information on pathogenesis. A novel c.352Cgreater thanG (L117V) SOD1 mutation was found in two Syrian ALS families living in Europe. The disease showed unusually low penetrance and slow progression. In erythrocytes, the total SOD1 activity, as well as specific activity of the mutant protein, was equal in carriers of the mutation and family controls lacking SOD1 mutations. The structural stabilities of the L117V mutant and wild-type SOD1 under denaturing conditions were likewise equal, but considerably lower than that of murine SOD1. As analyzed with an ELISA specific for misfolded SOD1 species, no differences were found in the content of misfolded SOD1 protein between extracts of fibroblasts from wild-type controls and from an L117V patient. In contrast, elevated levels of misfolded SOD1 protein were found in fibroblasts from ALS patients carrying seven other mutations in the SOD1 gene. We conclude that mutations in SOD1 that result in a fully stable protein are associated with low disease penetrance for ALS and may be found in cases of apparently sporadic ALS. Wild-type human SOD1 is moderately stable, and was found here to be within the stability range of ALS-causing SOD1 variants, lending support to the hypothesis that wild-type SOD1 could be more generally involved in ALS pathogenesis.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
Nyckelord
- MEDICINE
- MEDICIN
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Synofzik, M.
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Ronchi, D.
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Keskin, Isil
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Basak, A.N.
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Wilhelm, C.
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Gobbi, C.
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Birve, Anna
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Biskup, S.
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Zecca, C.
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Fernandez-Santia ...
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Kaugesaar, Tooma ...
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Schols, L.
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Marklund, Stefan ...
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Andersen, Peter ...
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