Ataxia is the major neuropathological finding in Arylsulfatase G deficient mice: Similarities and dissimilarities to Sanfilippo disease (Mucopolysaccharidosis type III)
Kowalewski B, Heimann P, Ortkras T, Lüllmann-Rauch R, Sawada T, Walkley SU, Dierks T, Damme M (2015)
Human Molecular Genetics 24(7): 1856-1868.
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Autor*in
Kowalewski, BjörnUniBi;
Heimann, PeterUniBi;
Ortkras, Theresa;
Lüllmann-Rauch, Renate;
Sawada, Tomo;
Walkley, Steven U;
Dierks, ThomasUniBi;
Damme, MarkusUniBi
Einrichtung
Abstract / Bemerkung
: Deficiency of Arylsulfatase G (ARSG) leads to a lysosomal storage disease in mice resembling biochemical and pathological features of the mucopolysaccharidoses and particularly features of mucopolysaccharidosis type III (Sanfilippo syndrome). Here we show that Arsg KO mice share common neuropathological findings with other Sanfilippo syndrome models and patients, but can be clearly distinguished by the limitation of most phenotypic alterations to the cerebellum, presenting with ataxia as the major neurological finding. We determined in detail the expression of ARSG in the central nervous system and observed highest expression in perivascular macrophages (which are characterized by abundant vacuolization in Arsg KO mice) and oligodendrocytes. To gain insight into possible mechanisms leading to ataxia, the pathology in older adult mice (> 12 months) was investigated in detail. This study revealed massive loss of Purkinje cells and gliosis in the cerebellum, and secondary accumulation of glycolipids like GM2 and GM3 gangliosides and unesterified cholesterol in surviving Purkinje cells, as well as neurons of some other brain regions. The abundant presence of ubiquitin and p62-positive aggregates in degenerating Purkinje cells coupled with the absence of significant defects in macroautophagy is consistent with lysosomal membrane permeabilization playing a role in the pathogenesis of Arsg deficient mice and presumably Sanfilippo disease in general. Our data delineating the phenotype of mucopolysaccharidosis IIIE in a mouse KO model should help in the identification of possible human cases of this disease.
Erscheinungsjahr
2015
Zeitschriftentitel
Human Molecular Genetics
Band
24
Ausgabe
7
Seite(n)
1856-1868
ISSN
0964-6906
eISSN
1460-2083
Page URI
https://pub.uni-bielefeld.de/record/2709463
Zitieren
Kowalewski B, Heimann P, Ortkras T, et al. Ataxia is the major neuropathological finding in Arylsulfatase G deficient mice: Similarities and dissimilarities to Sanfilippo disease (Mucopolysaccharidosis type III). Human Molecular Genetics. 2015;24(7):1856-1868.
Kowalewski, B., Heimann, P., Ortkras, T., Lüllmann-Rauch, R., Sawada, T., Walkley, S. U., Dierks, T., et al. (2015). Ataxia is the major neuropathological finding in Arylsulfatase G deficient mice: Similarities and dissimilarities to Sanfilippo disease (Mucopolysaccharidosis type III). Human Molecular Genetics, 24(7), 1856-1868. doi:10.1093/hmg/ddu603
Kowalewski, Björn, Heimann, Peter, Ortkras, Theresa, Lüllmann-Rauch, Renate, Sawada, Tomo, Walkley, Steven U, Dierks, Thomas, and Damme, Markus. 2015. “Ataxia is the major neuropathological finding in Arylsulfatase G deficient mice: Similarities and dissimilarities to Sanfilippo disease (Mucopolysaccharidosis type III)”. Human Molecular Genetics 24 (7): 1856-1868.
Kowalewski, B., Heimann, P., Ortkras, T., Lüllmann-Rauch, R., Sawada, T., Walkley, S. U., Dierks, T., and Damme, M. (2015). Ataxia is the major neuropathological finding in Arylsulfatase G deficient mice: Similarities and dissimilarities to Sanfilippo disease (Mucopolysaccharidosis type III). Human Molecular Genetics 24, 1856-1868.
Kowalewski, B., et al., 2015. Ataxia is the major neuropathological finding in Arylsulfatase G deficient mice: Similarities and dissimilarities to Sanfilippo disease (Mucopolysaccharidosis type III). Human Molecular Genetics, 24(7), p 1856-1868.
B. Kowalewski, et al., “Ataxia is the major neuropathological finding in Arylsulfatase G deficient mice: Similarities and dissimilarities to Sanfilippo disease (Mucopolysaccharidosis type III)”, Human Molecular Genetics, vol. 24, 2015, pp. 1856-1868.
Kowalewski, B., Heimann, P., Ortkras, T., Lüllmann-Rauch, R., Sawada, T., Walkley, S.U., Dierks, T., Damme, M.: Ataxia is the major neuropathological finding in Arylsulfatase G deficient mice: Similarities and dissimilarities to Sanfilippo disease (Mucopolysaccharidosis type III). Human Molecular Genetics. 24, 1856-1868 (2015).
Kowalewski, Björn, Heimann, Peter, Ortkras, Theresa, Lüllmann-Rauch, Renate, Sawada, Tomo, Walkley, Steven U, Dierks, Thomas, and Damme, Markus. “Ataxia is the major neuropathological finding in Arylsulfatase G deficient mice: Similarities and dissimilarities to Sanfilippo disease (Mucopolysaccharidosis type III)”. Human Molecular Genetics 24.7 (2015): 1856-1868.
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UNIPROT
9 Einträge gefunden, die diesen Artikel zitieren
N-sulfoglucosamine sulfohydrolase (Sulfamidase) (UNIPROT: A1L3T3)
Organism: Mus musculus
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Organism: Mus musculus
Download in FASTA format
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Meyer A, Kossow K, Gal A, Muhlhausen C, Ullrich K, Braulke T, Muschol N., Pediatrics 120(5), 2007
PMID: 17938166
Meyer A, Kossow K, Gal A, Muhlhausen C, Ullrich K, Braulke T, Muschol N., Pediatrics 120(5), 2007
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Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C).
van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA., Clin. Genet. 20(2), 1981
PMID: 6796310
van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA., Clin. Genet. 20(2), 1981
PMID: 6796310
Heparan sulfate 3-O-sulfation: a rare modification in search of a function.
Thacker BE, Xu D, Lawrence R, Esko JD., Matrix Biol. 35(), 2013
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Thacker BE, Xu D, Lawrence R, Esko JD., Matrix Biol. 35(), 2013
PMID: 24361527
Developmental and regional expression of heparan sulfate sulfotransferase genes in the mouse brain.
Yabe T, Hata T, He J, Maeda N., Glycobiology 15(10), 2005
PMID: 15944372
Yabe T, Hata T, He J, Maeda N., Glycobiology 15(10), 2005
PMID: 15944372
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