Ontology type: schema:ScholarlyArticle
2013-12-21
AUTHORSAndreas 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
ABSTRACTMarinesco–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... »
PAGES761-777
http://scigraph.springernature.com/pub.10.1007/s00401-013-1224-4
DOIhttp://dx.doi.org/10.1007/s00401-013-1224-4
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1039154197
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/24362440
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"description": "Marinesco\u2013Sj\u00f6gren 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\u2013lysosomal 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.",
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"name": "Acta Neuropathologica",
"publisher": "Springer Nature",
"type": "Periodical"
},
{
"issueNumber": "5",
"type": "PublicationIssue"
},
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"volumeNumber": "127"
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],
"keywords": [
"Marinesco-Sj\u00f6gren syndrome",
"sarcoplasmic reticulum",
"skeletal muscle pathology",
"autophagic vacuoles",
"MSS patients",
"impaired function",
"muscle pathology",
"progressive myopathy",
"human patients",
"cerebellar ataxia",
"vacuolar myopathy",
"ultrastructural hallmark",
"myopathy",
"nuclear lamina alterations",
"autophagy-lysosomal system",
"pathology",
"skeletal muscle",
"SIL1 mutations",
"disease mechanisms",
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"muscle",
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"mitochondrial changes",
"dysfunction",
"unfolded protein response",
"autophagic clearance",
"alterations",
"endoplasmic reticulum",
"protein response",
"lamina alterations",
"syndrome",
"pathomechanism",
"cataract",
"abnormalities",
"SIL1",
"ataxia",
"reticulum",
"membranous structures",
"clearance",
"proliferation",
"hallmark",
"vacuoles",
"activation",
"chaperone BiP",
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"BiP",
"retardation",
"initiation",
"mutations",
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"exchange factor",
"lamina",
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"lines",
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"system",
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"agreement",
"structure"
],
"name": "Myopathy in Marinesco\u2013Sj\u00f6gren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology",
"pagination": "761-777",
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