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Loss of supervillin...
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles
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- Oldfors Hedberg, Carola, 1969 (author)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine
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- Meyer, R. (author)
- RWTH Aachen University
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- Nolte, K. (author)
- RWTH Aachen University
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- Abdul Rahim, Yassir, 1992 (author)
- University 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
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- Lindberg, C. (author)
- Sahlgrenska University Hospital
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- Karason, K. (author)
- Sahlgrenska University Hospital
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- Thuestad, I. J. (author)
- Skåne University Hospital
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- Visuttijai, Kittichate (author)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine
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- Geijer, Mats, 1957 (author)
- University 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
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- Begemann, M. (author)
- RWTH Aachen University
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- Kraft, F. (author)
- RWTH Aachen University
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- Lausberg, E. (author)
- RWTH Aachen University
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- Hitpass, L. (author)
- RWTH Aachen University
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- Gotzl, R. (author)
- RWTH Aachen University
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- Luna, E. J. (author)
- University of Massachusetts Medical School
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- Lochmuller, H. (author)
- University of Ottawa
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- Koschmieder, S. (author)
- RWTH Aachen University
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- Gramlich, M. (author)
- RWTH Aachen University
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- Gess, B. (author)
- RWTH Aachen University
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- Elbracht, M. (author)
- RWTH Aachen University
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- Weis, J. (author)
- RWTH Aachen University
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- Kurth, I. (author)
- RWTH Aachen University
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- Oldfors, Anders, 1951 (author)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine
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- Knopp, C. (author)
- RWTH Aachen University
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(creator_code:org_t)
- 2020-08-10
- 2020
- English.
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In: Brain. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 143:8, s. 2406-2420
- Related links:
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http://dx.doi.org/10... (free)
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- 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
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- SVIL
- supervillin
- myopathy
- costameric protein
- cardiac disease
- myosin-ii
- f-actin
- muscular-dystrophies
- smooth-muscle
- archvillin
- protein
- binding
- contractility
- Neurosciences & Neurology.
Publication and Content Type
- ref (subject category)
- art (subject category)
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Brain
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- By the author/editor
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Oldfors Hedberg, ...
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Meyer, R.
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Nolte, K.
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Abdul Rahim, Yas ...
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Lindberg, C.
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Karason, K.
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show more...
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Thuestad, I. J.
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Visuttijai, Kitt ...
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Geijer, Mats, 19 ...
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Begemann, M.
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Kraft, F.
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Lausberg, E.
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Hitpass, L.
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Gotzl, R.
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Luna, E. J.
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Lochmuller, H.
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Koschmieder, S.
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Gramlich, M.
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Gess, B.
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Elbracht, M.
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Weis, J.
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Kurth, I.
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Oldfors, Anders, ...
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Knopp, C.
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
- Articles in the publication
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Brain
- By the university
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University of Gothenburg
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Lund University