Optineurin in neurodegenerative diseases
Article first published online: 1 FEB 2011
© 2011 Japanese Society of Neuropathology
Volume 31, Issue 6, pages 569–574, December 2011
How to Cite
Osawa, T., Mizuno, Y., Fujita, Y., Takatama, M., Nakazato, Y. and Okamoto, K. (2011), Optineurin in neurodegenerative diseases. Neuropathology, 31: 569–574. doi: 10.1111/j.1440-1789.2011.01199.x
- Issue published online: 21 NOV 2011
- Article first published online: 1 FEB 2011
- Received 7 October 2010; revised and accepted 20 December 2010.
- amyotrophic lateral sclerosis;
- neurodegenerative diseases;
Optineurin is a gene associated with normal tension glaucoma and primary open-angle glaucoma, one of the major causes of irreversible bilateral blindness. Recently, mutations in the gene encoding optineurin were found in patients with amyotrophic lateral sclerosis (ALS). Immunohistochemical analysis showed aggregation of optineurin in skein-like inclusions and round hyaline inclusions in the spinal cord, suggesting that optineurin appears to be a more general marker for ALS. However, our detailed examinations demonstrated that optineurin was found not only in ALS-associated pathological structures, but also in ubiquitin-positive intraneuronal inclusions in ALS with dementia, basophilic inclusions in the basophilic type of ALS, neurofibrillary tangles and dystrophic neurites in Alzheimer's disease, Lewy bodies and Lewy neurites in Parkinson's disease, ballooned neurons in Creutzfeldt-Jakob disease, glial cytoplasmic inclusions in multiple system atrophy, and Pick bodies in Pick disease. With respect to optineurin-positive basophilic inclusions, these structures showed variable immunoreactivities for ubiquitin; some structures were obviously ubiquitin-positive, while others were negative for the protein, suggesting that optineurin expression was not always associated with the expression of ubiquitin. This study indicates that optineurin is widely distributed in neurodegenerative conditions; however, its significance is obscure.