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  • Oldfors Hedberg, Carola,1969University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine (author)

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

  • Article/chapterEnglish2020

Publisher, publication year, extent ...

  • 2020-08-10
  • Oxford University Press (OUP),2020

Numbers

  • LIBRIS-ID:oai:gup.ub.gu.se/297219
  • https://gup.ub.gu.se/publication/297219URI
  • https://doi.org/10.1093/brain/awaa206DOI
  • https://lup.lub.lu.se/record/5c1aff5c-c9ff-4b08-831d-a8cd5b87d1ebURI

Supplementary language notes

  • Language:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • The muscle specific isoform of the supervillin protein (SV2), encoded by the SVIL gene, is a large sarcolemmal myosin II- and F-actin-binding protein. Supervillin (SV2) binds and co-localizes with costameric dystrophin and binds nebulin, potentially attaching the sarcolemma to myofibrillar Z-lines. Despite its important role in muscle cell physiology suggested by various in vitro studies, there are so far no reports of any human disease caused by SVIL mutations. We here report four patients from two unrelated, consanguineous families with a childhood/adolescence onset of a myopathy associated with homozygous loss-of-function mutations in SVIL. Wide neck, anteverted shoulders and prominent trapezius muscles together with variable contractures were characteristic features. All patients showed increased levels of serum creatine kinase but no or minor muscle weakness. Mild cardiac manifestations were observed. Muscle biopsies showed complete loss of large supervillin isoforms in muscle fibres by western blot and immunohistochemical analyses. Light and electron microscopic investigations revealed a structural myopathy with numerous lobulated muscle fibres and considerable myofibrillar alterations with a coarse and irregular intermyofibrillar network. Autophagic vacuoles, as well as frequent and extensive deposits of lipoproteins, including immature lipofuscin, were observed. Several sarcolemma-associated proteins, including dystrophin and sarcoglycans, were partially mis-localized. The results demonstrate the importance of the supervillin (SV2) protein for the structural integrity of muscle fibres in humans and show that recessive loss-of-function mutations in SVIL cause a distinctive and novel myopathy

Subject headings and genre

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  • Meyer, R.RWTH Aachen University (author)
  • Nolte, K.RWTH Aachen University (author)
  • Abdul Rahim, Yassir,1992University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology(Swepub:lu)ya6640ab (author)
  • Lindberg, C.Sahlgrenska University Hospital (author)
  • Karason, K.Sahlgrenska University Hospital (author)
  • Thuestad, I. J.Skåne University Hospital (author)
  • Visuttijai, KittichateUniversity of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine(Swepub:gu)xviski (author)
  • Geijer, Mats,1957University of Gothenburg,Lund University,Lunds universitet,Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för radiologi,Institute of Clinical Sciences, Department of Radiology,Diagnostisk radiologi, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,LUBIN Lab- Lunds laboratorium för neurokirurgisk hjärnskadeforskning,Forskargrupper vid Lunds universitet,Diagnostic Radiology, (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,LUBIN Lab- Lund Brain Injury laboratory for Neurosurgical research,Lund University Research Groups(Swepub:lu)med-mge (author)
  • Begemann, M.RWTH Aachen University (author)
  • Kraft, F.RWTH Aachen University (author)
  • Lausberg, E.RWTH Aachen University (author)
  • Hitpass, L.RWTH Aachen University (author)
  • Gotzl, R.RWTH Aachen University (author)
  • Luna, E. J.University of Massachusetts Medical School (author)
  • Lochmuller, H.University of Ottawa (author)
  • Koschmieder, S.RWTH Aachen University (author)
  • Gramlich, M.RWTH Aachen University (author)
  • Gess, B.RWTH Aachen University (author)
  • Elbracht, M.RWTH Aachen University (author)
  • Weis, J.RWTH Aachen University (author)
  • Kurth, I.RWTH Aachen University (author)
  • Oldfors, Anders,1951University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine(Swepub:gu)xoland (author)
  • Knopp, C.RWTH Aachen University (author)
  • Göteborgs universitetInstitutionen för biomedicin (creator_code:org_t)

Related titles

  • In:Brain: Oxford University Press (OUP)143:8, s. 2406-24200006-89501460-2156

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