THE LYSOSOMAL STORAGE DISEASE GM2 GANGLIOSIDOSIS IN CAPTIVE BANDED MONGOOSE SIBLINGS (MUNGOS MUNGO).

Wimmershoff, Julia; Kühni-Boghenbor, Kathrin; Sewell, Adrian C; Oevermann, Anna; Farwanah, Hany; Robert, Nadia; Hoby, Stefan; Wenker, Christian; Stoffel, Michael Hubert (2018). THE LYSOSOMAL STORAGE DISEASE GM2 GANGLIOSIDOSIS IN CAPTIVE BANDED MONGOOSE SIBLINGS (MUNGOS MUNGO). Journal of zoo and wildlife medicine, 49(2), pp. 335-344. American Association of Zoo Veterinarians 10.1638/2017-0199.1

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This study reports the occurrence of the lysosomal storage disease GM2 gangliosidosis (Sandhoff disease) in two 11-mo-old captive-bred, male and female mongoose siblings ( Mungos mungo). The clinical signs and the pathological findings reported here were similar to those reported in other mammalian species. Light microscopy revealed an accumulation of stored material in neurons and macrophages accompanied by a significant neuronal degeneration (swelling of neuronal soma, loss of Nissl substance, and neuronal loss) and gliosis. Electron microscopy of brain tissue identified the stored material as membrane-bound multilamellar bodies. An almost complete lack of total hexosaminidase activity in serum suggested a defect in the HEXB gene (Sandhoff disease in humans). High-performance thin-layer chromatography and mass spectrometry confirmed the accumulation of GM2 ganglioside in brain and kidney tissue, and the lectin staining pattern of the brain tissue further corroborated the diagnosis of a Sandhoff-type lysosomal storage disease.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Experimental Clinical Research
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Veterinary Anatomy
09 Interdisciplinary Units > Microscopy Imaging Center (MIC)
05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP) > Center for Fish and Wildlife Health (FIWI)

UniBE Contributor:

Wimmershoff, Julia; Kühni, Kathrin; Oevermann, Anna; Robert, Nadia; Hoby, Stefan and Stoffel, Michael Hubert

Subjects:

500 Science > 570 Life sciences; biology
500 Science > 590 Animals (Zoology)
600 Technology > 610 Medicine & health

ISSN:

1042-7260

Publisher:

American Association of Zoo Veterinarians

Language:

English

Submitter:

Vanessa Alice Blum

Date Deposited:

28 Jun 2018 10:29

Last Modified:

11 Jan 2019 13:36

Publisher DOI:

10.1638/2017-0199.1

PubMed ID:

29900785

Uncontrolled Keywords:

Banded mongoose Mungos mungo Sandhoff disease gangliosidosis hereditary disease pathology

URI:

https://boris.unibe.ch/id/eprint/117410

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