adeResearchers at the University of Adelaide highlight a new theory spotlighting a molecular pathway that may potentially cause a range of neurodegenerative diseases, including ALS and Huntington’s disease.

A news release from the university reports that the range of about 20 diseases share overlapping symptoms that typically include nerve cell death and share a similar genetic mutation mechanism. The form of the mutation however, has remained elusive, researchers state.

Robert Richards, head of Genetics in the university’s School of Molecular and Biomedical Sciences, notes that, “By uncovering the molecular pathway for these diseases, we now expect to be able to define targets for intervention and so come up with potential therapies. Ultimately this will help sufferers to reduce the amount of nerve cell degeneration or slow its progression.”

Richards and his colleagues describe their theory and evidence for the vital role of RNA in the development of diseases in an article appearing in Frontiers in Molecular Neuroscience. The study indicates that individuals with these diseases exhibit expanded numbers of copies of particular sequences of the “nucleotide bases” which comprise DNA.

Richards adds that in many cases, individuals with these diseases exhibit increased number of repeat sequences in their RNA, and as a result, “The disease develops when people have too many copies of the repeat sequence. Above a certain threshold, the more copies they have the earlier the disease develops and the more severe the symptoms.”

The evidence suggests a dysfunctional RNA and its key role in the body’s immune system in the development of the disease.

Richards explains that the “expanded repeat RNA” may be seen as foreign, like the RNA in a virus, “and this activates the innate immune system, resulting in loss of function and ultimately the death of the cell,” Richards says.

The release notes that the University of Adelaide laboratory modeled and defined the expanded repeat RNA disease pathways using flies. Once the new information obtained from the research has been proven in each of the relevant human diseases, it may pave the way for potential treatments and offer hope to patients with these diseases, Richards adds.

Source: University of Adelaide