LC3, an autophagosome marker, is expressed on oligodendrocytes in Nasu-Hakola disease brains
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- 作者：Jun-ichi Satoh (13)
Nobutaka Motohashi (14)
Yoshihiro Kino (13)
Tsuyoshi Ishida (15)
Saburo Yagishita (16)
Kenji Jinnai (17)
Nobutaka Arai (18)
Kiyotaka Nakamagoe (19)
Akira Tamaoka (19)
Yuko Saito (20)
Kunimasa Arima (21)
13. Department of Bioinformatics and Molecular Neuropathology ; Meiji Pharmaceutical University ; Tokyo ; Japan
14. Department of Psychiatry ; University of Yamanashi ; Faculty of Medicine ; Yamanashi ; Japan
15. Department of Pathology and Laboratory Medicine ; Kohnodai Hospital ; National Center for Global Health and Medicine ; Chiba ; Japan
16. Department of Pathology ; Kanagawa Rehabilitation Center ; Kanagawa ; Japan
17. Department of Neurology ; NHO Hyogo-Chuo Hospital ; Hyogo ; Japan
18. Brain Pathology Research Center ; Tokyo Metropolitan Institute of Medical Science ; Tokyo ; Japan
19. Department of Neurology ; Institute of Clinical Medicine ; University of Tsukuba ; Ibaraki ; Japan
20. Department of Laboratory Medicine ; National Center Hospital ; NCNP ; Tokyo ; Japan
21. Department of Psychiatry ; National Center Hospital ; NCNP ; Tokyo ; Japan - 关键词：Autophagy ; LC3 ; Leukoencephalopathy ; Nasu ; Hakola disease ; Oligodendrocytes
- 刊名：Orphanet Journal of Rare Diseases
- 出版年：2014
- 出版时间：December 2014
- 年：2014
- 卷：9
- 期：1
- 全文大小：1,632 KB
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- 出版者：BioMed Central
- ISSN：1750-1172
文摘
Background Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by sclerosing leukoencephalopathy and multifocal bone cysts, caused by a loss-of-function mutation of either DAP12 or TREM2. TREM2 and DAP12 constitute a receptor/adaptor signaling complex expressed exclusively on osteoclasts, dendritic cells, macrophages, and microglia. Neuropathologically, NHD exhibits profound loss of myelin and accumulation of axonal spheroids, accompanied by intense gliosis accentuated in the white matter of the frontal and temporal lobes. At present, the molecular mechanism responsible for development of leukoencephalopathy in NHD brains remains totally unknown. Methods By immunohistochemistry, we studied the expression of microtubule-associated protein 1 light chain 3 (LC3), an autophagosome marker, in 5 NHD and 12 control brains. Results In all NHD brains, Nogo-A-positive, CNPase-positive oligodendrocytes surviving in the non-demyelinated white matter intensely expressed LC3. They also expressed ubiquitin, ubiquilin-1, and histone deacetylase 6 (HDAC6) but did not express Beclin 1 or sequestosome 1 (p62). Substantial numbers of axonal spheroids were also labeled with LC3 in NHD brains. In contrast, none of oligodendrocytes expressed LC3 in control brains. Furthermore, surviving oligodendrocytes located at the demyelinated lesion edge of multiple sclerosis (MS) did not express LC3, whereas infiltrating Iba1-positive macrophages and microglia intensely expressed LC3 in MS lesions. Conclusions These results propose a novel hypothesis that aberrant regulation of autophagy might induce oligodendrogliopathy causative of leukoencephalopathy in NHD brains.