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Immune response holds treatment clue for devastating diseases

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Australian researchers have solved a molecular mystery that could open the way to finding potential treatments for currently untreatable diseases like Huntington’s disease and Lou Gehrig’s disease.

The University of Adelaide team has identified a likely molecular pathway that causes a certain group of diseases.

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.

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

“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,” Professor Roberts said.

“Ultimately, this will help sufferers to reduce the amount of nerve cell degeneration or slow its progression.”

In an article published in Frontiers in Molecular Neuroscience, Professor Richards and colleagues put forward new evidence for the key role of RNA in the development of the disease.

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

Professor Richards said people with these diseases all 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,” he said.

“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.”

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

“Rather than recognising 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 team carried out their research on flies in the laboratory.

“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,” Professor Richards said.

Debra Vermeer