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Identification and ...
Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases.
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Jezierska, Justyna (author)
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Stevanin, Giovanni (author)
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- Watanabe, Hiroyuki (author)
- Uppsala universitet,Institutionen för farmaceutisk biovetenskap
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Fokkens, Michiel R (author)
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Zagnoli, Fabien (author)
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Kok, Jérôme (author)
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Goas, Jean-Yves (author)
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Bertrand, Pierre (author)
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Robin, Christophe (author)
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Brice, Alexis (author)
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- Bakalkin, Georgy (author)
- Uppsala universitet,Institutionen för farmaceutisk biovetenskap
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Durr, Alexandra (author)
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Verbeek, Dineke S (author)
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(creator_code:org_t)
- 2013-03-08
- 2013
- English.
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In: Journal of Neurology. - : Springer Science and Business Media LLC. - 0340-5354 .- 1432-1459. ; 260:7, s. 1807-1812
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- We have recently identified missense mutations in prodynorphin (PDYN), the precursor to dynorphin opioid peptides, as the cause for spinocerebellar ataxia (SCA23) in Dutch ataxia cases. We report a screen of PDYN for mutations in 371 cerebellar ataxia cases, which had a positive family history; most are of French origin. Sequencing revealed three novel putative missense mutations and one heterozygous two-base pair deletion in four independent SCA patients. These variants were absent in 400 matched controls and are located in the highly conserved dynorphin domain. To resolve the pathogenicity of the heterozygous variants, we assessed the peptide production of the mutant PDYN proteins. Two missense mutations raised dynorphin peptide levels, the two-base pair deletion terminated dynorphin synthesis, and one missense mutation did not affect PDYN processing. Given the outcome of our functional analysis, we may have identified at least two novel PDYN mutations in a French and a Moroccan SCA patient. Our data corroborates recent work that also showed that PDYN mutations only account for a small percentage (~0.1 %) of European SCA cases.
Subject headings
- NATURVETENSKAP -- Biologi -- Biokemi och molekylärbiologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Biochemistry and Molecular Biology (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Jezierska, Justy ...
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Stevanin, Giovan ...
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Watanabe, Hiroyu ...
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Fokkens, Michiel ...
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Zagnoli, Fabien
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Kok, Jérôme
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show more...
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Goas, Jean-Yves
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Bertrand, Pierre
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Robin, Christoph ...
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Brice, Alexis
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Bakalkin, Georgy
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Durr, Alexandra
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Verbeek, Dineke ...
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- About the subject
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Biochemistry and ...
- Articles in the publication
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Journal of Neuro ...
- By the university
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Uppsala University