The group of about 20 diseases, which show overlapping symptoms that typically include nerve cell death, share a similar genetic mutation mechanism - but how this form of mutation causes these diseases has remained a mystery.

"Despite the genes for some of these diseases having been identified 20 years ago, we still haven't understood the underlying mechanisms that lead to people developing clinical symptoms," said Professor Robert Richards, Head of Genetics in the University of Adelaide's School of Molecular and Biomedical Sciences.

"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 said.

Researchers have found new evidence for the key role of RNA in the development of the diseases.

RNA is a large molecule in the cell that copies genetic code from the cell's DNA and translates it into the proteins that drive biological functions.

People with these diseases have expanded numbers of copies of particular sequences of the 'nucleotide bases' which make up DNA.

"In most cases people with these diseases have increased numbers of repeat sequences in their RNA," said Richards.

"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 current gap in knowledge is why having these expanded repeat sequences of genes in the RNA translates into actual symptoms," he said.

Richards said that evidence points towards a dysfunctional RNA and a pivotal role of the body's immune system in the development of the disease.

"Rather than recognizing the 'expanded repeat RNA' as its own RNA, we believe the 'expanded repeat RNA' is being 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," he said.
The University of Adelaide laboratory modeled and defined the expanded repeat RNA disease pathway using flies (Drosophila).

"This new understanding, once proven in each of the relevant human diseases, opens the way for potential treatments, and should give cause for hope to those with these devastating diseases," Richards said.

The study was published in journal Frontiers in Molecular Neuroscience.


Latest News from Lifestyle News Desk