title: Neuronal accumulation of alpha- and beta-synucleins in the brain of a GM2 gangliosidosis mouse model.
abstract: Sandhoff disease (SD) is a heritable lysosomal storage disease resulting from impaired degradation of GM2 ganglioside. The hallmark pathology of the SD model mouse brain is GM2 ganglioside accumulation in neurons. In the present study, we immunohistochemically investigated the neuronal pathology in SD mouse brains, and demonstrated neuronal accumulation of alpha- and beta-synucleins in addition to GM2 ganglioside. Synuclein-positive neurons were extensively observed throughout SD mouse brains, although the distribution of beta-synuclein was less extensive than that of alpha-synuclein. Synuclein-positive neurons were negative to ubiquitin and PHF-tau. These findings suggest that neuronal synucleins may accumulate secondarily to GM2 ganglioside in SD mouse brains, and that neuronal accumulation of synucleins may be more critical than that of GM2 ganglioside for SD mice.
authors.affiliation: Department of Psychiatry, Yokohama City University School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan. kyon@mail.cc.tohoku.ac.jp
authors.forename: Kyoko
authors.initials: K
authors.lastname: Suzuki
authors.forename: Eizo
authors.initials: E
authors.lastname: Iseki
authors.forename: Omi
authors.initials: O
authors.lastname: Katsuse
authors.forename: Akira
authors.initials: A
authors.lastname: Yamaguchi
authors.forename: Kayoko
authors.initials: K
authors.lastname: Katsuyama
authors.forename: Ichiro
authors.initials: I
authors.lastname: Aoki
authors.forename: Shoji
authors.initials: S
authors.lastname: Yamanaka
authors.forename: Kenji
authors.initials: K
authors.lastname: Kosaka
mesh_terms: D000818:Animals; D001921:Brain / Q000378:metabolism* / Q000473:pathology; D004195:Disease Models, Animal; D020143:Gangliosidoses, GM2 / Q000378:metabolism*; D007150:Immunohistochemistry; D051379:Mice; D008815:Mice, Inbred Strains; D018345:Mice, Knockout; D009419:Nerve Tissue Proteins / Q000145:classification / Q000378:metabolism*; D009474:Neurons / Q000378:metabolism*; D012497:Sandhoff Disease / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D051843:Synucleins; D051844:alpha-Synuclein; D051846:beta-Synuclein
chemical_list: D009419:Nerve Tissue Proteins; C497605:Snca protein, mouse; C497608:Sncb protein, mouse; D051843:Synucleins; D051844:alpha-Synuclein; D051846:beta-Synuclein