Myopathy in Marinesco–Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2013-12-21

AUTHORS

Andreas Roos, Stephan Buchkremer, Laxmikanth Kollipara, Thomas Labisch, Christian Gatz, Manuela Zitzelsberger, Eva Brauers, Kay Nolte, J. Michael Schröder, Janbernd Kirschner, Christopher Marvin Jesse, Hans Hilmar Goebel, Anand Goswami, Richard Zimmermann, René Peiman Zahedi, Jan Senderek, Joachim Weis

ABSTRACT

Marinesco–Sjögren syndrome (MSS) features cerebellar ataxia, mental retardation, cataracts, and progressive vacuolar myopathy with peculiar myonuclear alterations. Most MSS patients carry homozygous or compound heterozygous SIL1 mutations. SIL1 is a nucleotide exchange factor for the endoplasmic reticulum resident chaperone BiP which controls a plethora of essential processes in the endoplasmic reticulum. In this study we made use of the spontaneous Sil1 mouse mutant woozy to explore pathomechanisms leading to Sil1 deficiency-related skeletal muscle pathology. We found severe, progressive myopathy characterized by alterations of the sarcoplasmic reticulum, accumulation of autophagic vacuoles, mitochondrial changes, and prominent myonuclear pathology including nuclear envelope and nuclear lamina alterations. These abnormalities were remarkably similar to the myopathy in human patients with MSS. In particular, the presence of perinuclear membranous structures which have been reported as an ultrastructural hallmark of MSS-related myopathy could be confirmed in woozy muscles. We found that these structures are derived from the nuclear envelope and nuclear lamina and associate with proliferations of the sarcoplasmic reticulum. In line with impaired function of BiP secondary to loss of its nucleotide exchange factor Sil1, we observed activation of the unfolded protein response and the endoplasmic-reticulum-associated protein degradation-pathway. Despite initiation of the autophagy–lysosomal system, autophagic clearance was found ineffective which is in agreement with the formation of autophagic vacuoles. This report identifies woozy muscle as a faithful phenocopy of the MSS myopathy. Moreover, we provide a link between two well-established disease mechanisms in skeletal muscle, dysfunction of chaperones and nuclear envelope pathology. More... »

PAGES

761-777

References to SciGraph publications

  • 2012-06-29. The pathways of mitophagy for quality control and clearance of mitochondria in CELL DEATH & DIFFERENTIATION
  • 2005-08-14. Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP in NATURE GENETICS
  • 1982. Pathologie der Muskulatur in NONE
  • 2003-02. Enforced Expression of Oxygen-Regulated Protein, ORP150, Induces Vacuolar Degeneration in Mouse Myocardium in TRANSGENIC RESEARCH
  • 2009-01-21. Functions and pathologies of BiP and its interaction partners in CELLULAR AND MOLECULAR LIFE SCIENCES
  • 2012-02-26. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy in NATURE GENETICS
  • 2013-03-03. Interplay of LRRK2 with chaperone-mediated autophagy in NATURE NEUROSCIENCE
  • 1990-06. Myopathy in Marinesco-Sjögren syndrome: an ultrastructural study in ACTA NEUROPATHOLOGICA
  • 1983-11. Immunoglobulin heavy chain binding protein in NATURE
  • 2005-11-13. Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy in NATURE GENETICS
  • 2007-07. Signal integration in the endoplasmic reticulum unfolded protein response in NATURE REVIEWS MOLECULAR CELL BIOLOGY
  • 2005-11-13. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone in NATURE GENETICS
  • 2011-01-21. Endoplasmic reticulum stress activates autophagy but not the proteasome in neuronal cells: implications for Alzheimer's disease in CELL DEATH & DIFFERENTIATION
  • 2012-10-17. Progressive degeneration of human neural stem cells caused by pathogenic LRRK2 in NATURE
  • 2012-01-08. Endoplasmic reticulum stress mediating downregulated StAR and 3-beta-HSD and low plasma testosterone caused by hypoxia is attenuated by CPU86017-RS and nifedipine in JOURNAL OF BIOMEDICAL SCIENCE
  • 2011-02-11. The Beclin 1 network regulates autophagy and apoptosis in CELL DEATH & DIFFERENTIATION
  • 2001-11. Nuclear envelope and nuclear matrix: interactions and dynamics in CELLULAR AND MOLECULAR LIFE SCIENCES
  • 1997-10. Apoptotic nuclear degeneration in Marinesco-Sjögren syndrome in ACTA NEUROPATHOLOGICA
  • 2008-06-13. The unfolded protein response regulator GRP78/BiP is required for endoplasmic reticulum integrity and stress-induced autophagy in mammalian cells in CELL DEATH & DIFFERENTIATION
  • 2000-12. Age-related appearance of tubular aggregates in the skeletal muscle of almost all male inbred mice in HISTOCHEMISTRY AND CELL BIOLOGY
  • 2002-01-28. Protein dislocation from the ER requires polyubiquitination and the AAA-ATPase Cdc48 in NATURE CELL BIOLOGY
  • 2001-12-06. The AAA ATPase Cdc48/p97 and its partners transport proteins from the ER into the cytosol in NATURE
  • 2007-05. Werner and Hutchinson–Gilford progeria syndromes: mechanistic basis of human progeroid diseases in NATURE REVIEWS MOLECULAR CELL BIOLOGY
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00401-013-1224-4

    DOI

    http://dx.doi.org/10.1007/s00401-013-1224-4

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1039154197

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/24362440


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