Anti-neurodegeneration gene studied

Researchers have explained how a specific gene can help break down protein clumps that may otherwise lead to neurodegenerative diseases.

Dr Thimo Kurz and colleagues at Glasgow University, UK, investigated a gene called UBQLN2, which allows bodily cells to remove protein clumps that occur as part of the natural aging process.

Following a series of lab tests, they found that UBQLN2 first causes detangling of the clumps using the protein HSP70 and related compounds, then shreds the clumps to prevent future tangles. If left to build up, these clumps can cause Alzheimer’s disease, Parkinson’s disease and Huntington’s disease, among others.

Dr Kurz explains that when UBQLN2 mutates or becomes faulty, it can no longer help the cell to remove these toxic protein clumps.

"The function of UBQNL2 is connected to many neurodegenerative disorders," he says. "These patients often have very clear clumps in their brain cells.

"Using mice that mimic human Huntington’s disease, we found that when UBQLN2 is mutated, it could no longer help nerve cells to remove protein clumps in the brains of these mice."

Details of the study were published last week in Cell. The researchers hope these findings will help pave the way for research into new treatments.

First author, Dr Roland Hjerpe, says: "The significance of this discovery goes beyond the role of UBQLN2 in motor-neuron disease with dementia. Our study has revealed a new mechanism by which nerve cells cope with protein clumps in general, which has implications for most neurodegenerative diseases and can open up avenues for new therapeutic interventions to treat these conditions in the future."

Hjerpe, R. et al. UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome. Cell 28 July 2016 doi: 10.1016/j.cell.2016.07.001 [abstract]