A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease

Wolf H, Damme M, Stroobants S, D'Hooge R, Beck HC, Hermans-Borgmeyer I, Lüllmann-Rauch R, Dierks T, Lübke T (2016)
Disease Models & Mechanisms 9(9): 1015-1028.

Zeitschriftenaufsatz | Veröffentlicht| Englisch
 
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Wolf, HeikeUniBi; Damme, MarkusUniBi; Stroobants, Stijn; D'Hooge, Rudi; Beck, Hans Christian; Hermans-Borgmeyer, Irm; Lüllmann-Rauch, Renate; Dierks, ThomasUniBi; Lübke, TorbenUniBi
Abstract / Bemerkung
Fucosidosis is a rare lysosomal storage disorder caused by the inherited deficiency of the lysosomal hydrolase α-L-fucosidase, which leads to an impaired degradation of fucosylated glycoconjugates. Here, we report the generation of a fucosidosis mouse model, in which the gene for lysosomal α-L-fucosidase (Fuca1) was disrupted by gene targeting. Homozygous knockout mice completely lack α-L-fucosidase activity in all tested organs leading to highly elevated amounts of the core-fucosylated glycoasparagine Fuc (α1,6)-GlcNAc(β1-N)-Asn and, to a lesser extent, other fucosylated glycoasparagines, which all were also partially excreted in urine. Lysosomal storage pathology was observed in many visceral organs, such as in the liver, kidney, spleen and bladder, as well as in the central nervous system (CNS). On the cellular level, storage was characterized by membrane-limited cytoplasmic vacuoles primarily containing water-soluble storage material. In the CNS, cellular alterations included enlargement of the lysosomal compartment in various cell types, accumulation of secondary storage material and neuroinflammation, as well as a progressive loss of Purkinje cells combined with astrogliosis leading to psychomotor and memory deficits. Our results demonstrate that this new fucosidosis mouse model resembles the human disease and thus will help to unravel underlying pathological processes. Moreover, this model could be utilized to establish diagnostic and therapeutic strategies for fucosidosis.
Stichworte
Fucosidosis; Neurodegeneration; Lysosomal storage disorder
Erscheinungsjahr
2016
Zeitschriftentitel
Disease Models & Mechanisms
Band
9
Ausgabe
9
Seite(n)
1015-1028
ISSN
1754-8403, 1754-8411
Finanzierungs-Informationen
Article Processing Charge funded by the Deutsche Forschungsgemeinschaft and the Open Access Publication Fund of Bielefeld University.
Page URI
https://pub.uni-bielefeld.de/record/2905616

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Wolf H, Damme M, Stroobants S, et al. A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease. Disease Models & Mechanisms. 2016;9(9):1015-1028.
Wolf, H., Damme, M., Stroobants, S., D'Hooge, R., Beck, H. C., Hermans-Borgmeyer, I., Lüllmann-Rauch, R., et al. (2016). A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease. Disease Models & Mechanisms, 9(9), 1015-1028. doi:10.1242/dmm.025122
Wolf, H., Damme, M., Stroobants, S., D'Hooge, R., Beck, H. C., Hermans-Borgmeyer, I., Lüllmann-Rauch, R., Dierks, T., and Lübke, T. (2016). A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease. Disease Models & Mechanisms 9, 1015-1028.
Wolf, H., et al., 2016. A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease. Disease Models & Mechanisms, 9(9), p 1015-1028.
H. Wolf, et al., “A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease”, Disease Models & Mechanisms, vol. 9, 2016, pp. 1015-1028.
Wolf, H., Damme, M., Stroobants, S., D'Hooge, R., Beck, H.C., Hermans-Borgmeyer, I., Lüllmann-Rauch, R., Dierks, T., Lübke, T.: A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease. Disease Models & Mechanisms. 9, 1015-1028 (2016).
Wolf, Heike, Damme, Markus, Stroobants, Stijn, D'Hooge, Rudi, Beck, Hans Christian, Hermans-Borgmeyer, Irm, Lüllmann-Rauch, Renate, Dierks, Thomas, and Lübke, Torben. “A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease”. Disease Models & Mechanisms 9.9 (2016): 1015-1028.
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2 Zitationen in Europe PMC

Daten bereitgestellt von Europe PubMed Central.

Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice.
Stroobants S, Wolf H, Callaerts-Vegh Z, Dierks T, Lübke T, D'Hooge R., Front Behav Neurosci 12(), 2018
PMID: 29706874
Transcriptomic analysis of FUCA1 knock-down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions.
Valero-Rubio D, Jiménez KM, Fonseca DJ, Payán-Gómez C, Laissue P., Exp Dermatol 27(6), 2018
PMID: 29518279

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