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- Publisher
- Springer Journals
- Copyright
- Copyright © 2010 by Macmillan Publishers Limited. All rights reserved
- Subject
- Science, Humanities and Social Sciences, multidisciplinary; Science, Humanities and Social Sciences, multidisciplinary; Science, multidisciplinary
- ISSN
- 0028-0836
- eISSN
- 1476-4687
- DOI
- 10.1038/nature08971
- Publisher site
- See Article on Publisher Site
Abstract
About 10% of cases of the motor neuron disease amyotrophic lateral sclerosis (ALS) are familial, but the small number of mutations so far identified account for only around 20–30% of the those cases. A new study of individuals from ALS-carrying families has now identified three different and previously unknown mutations of OPTN, the gene encoding optineurin. OPTN was earlier reported to be the causative gene of rare familial glaucoma. Optineurin's ability to inhibit activation of the regulatory protein NF-κB is lost in the mutant forms, suggesting that NF-κB inhibitors might be useful in ALS treatment.
Journal
Nature – Springer Journals
Published: Apr 28, 2010