Reduce, reuse and recycle.  Ubqln2 may help reduce misfolded proteins in the CNS by delivering them to protein degrading machines called proteasomes.  The resulting amino acids are subsequently reused to make new proteins.  Image: Emw, Wikimedia Commons.

Alterations in the ubiquilin 2 (Ubqln2) gene may trigger a rare form of ALS and ALS-dementia according to a study published this week.  Ubiquilin 2 may help reduce misfolded proteins which typically buildup in the central nervous system in people with ALS.  Researchers estimate that mutations in the gene, the thirteenth ALS gene identified to date, explain less than 1% of inherited cases of the disease.  The discovery adds to growing evidence that accumulation of misfolded proteins contributes to ALS.


Deng, H.X et al. (2011) Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature, 477(7363), 211-215.  Abstract  |  Full Text (Subscription Required)

Further Reading

Daoud, H. and Rouleau, G.A. (2011) A role for ubiquilin 2 mutations in neurodegeneration. Nature Reviews Neurology 7, 599-600.  Full Text