Optineurin in neurodegenerative diseases

摘要: Optineurin is a gene associated with normal tension glaucoma and primary open-angle glaucoma, one of the major causes irreversible bilateral blindness. Recently, mutations in encoding optineurin were found patients amyotrophic lateral sclerosis (ALS). Immunohistochemical analysis showed aggregation skein-like inclusions round hyaline spinal cord, suggesting that appears to be more general marker for ALS. However, our detailed examinations demonstrated was not only ALS-associated pathological structures, but also ubiquitin-positive intraneuronal ALS dementia, basophilic type ALS, neurofibrillary tangles dystrophic neurites Alzheimer's disease, Lewy bodies Parkinson's ballooned neurons Creutzfeldt-Jakob glial cytoplasmic multiple system atrophy, Pick disease. With respect optineurin-positive inclusions, these structures variable immunoreactivities ubiquitin; some obviously ubiquitin-positive, while others negative protein, expression always ubiquitin. This study indicates widely distributed neurodegenerative conditions; however, its significance obscure.