Researchers are optimistic about developing a new therapy for sufferers of neurodegenerative brain disorders.
Vast amounts of financial resources and scientific discovery has gone into understanding the intricate processes that lead to neurodegenerative brain disorders, such as Parkinson’s, Alzheimer’s, and Huntington’s.
What is known thus far is that over a period of time, the structure and function of certain brain cells deteriorate, leading ultimately to neuron death. Neuron death is implicated in the onset of progressive brain disorders such as Alzheimer’s.
A Mutated Gene Impacts Brain Cell Health
Previous studies identified a causal relationship between the UBQLN2 gene and neuron degeneration.
It was found that when the UBQLN2 gene mutates, it contributes in some way to neuron degeneration.
However, the key to unlocking the dynamics of the relationship was still missing.
A recent study out of the University of Glasgow, “UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome”, seems to give an exciting new clue into this dynamic interplay between the gene and neuron impairment.
Researchers discovered that healthy UBQLN2 genes have a vital function to fulfill in maintaining neuron health. In mouse models, the undamaged UBQLN2 gene helped to remove toxic protein clumps which form in brain cells.
It is known that these protein clumps cause neurodegeneration. However, when the UBQLN2 gene is mutated, it ceases to serve this vital function and the protein clumps proliferate.
Glasgow’s Dr. Thimo Kurz, PhD from the Institute of Molecular, Cell, and Systems Biology, said that patients with a neurological disease show significant clumps in their brain cells.
When mimicking Huntington’s disease in mice models, it was discovered that the mutated UBQLN2 gene did not serve its function of cleaning the neurons of these protein clumps.
Dr. Roland Hjerpe, the study’s author, noted that the study’s significance extends beyond the role of UBQLN2 in dementia. He looks forward to the development of new therapeutic models that will treat a broad range of neurodegenerative diseases.