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New study throws light on genetic aspects of Parkinson’s and targeted treatment potential

01/12/22 - Exploration of previously under-researched aspects of Parkinson’s disease is revealing new clues on what triggers this degenerative brain disorder and how to slow its progression.

A paper published in the journal Experimental Biology and Medicine suggests that DNA elements largely ignored in most genetic studies could influence disease development.

The Senior Author is Professor Sulev Koks MD, PhD, head of Genetic Epidemiology Research at Western Australia’s Perron Institute for Neurological and Translational Science and the Centre for Molecular Medicine and Innovative Therapeutics at Murdoch University.

The study, ‘Longitudinal intronic RNA-Seq analysis of Parkinson’s disease patients reveals disease-specific nascent transcription’, was undertaken with colleagues at the Perron Institute, Murdoch University and Professor John Quinn’s group at the University of Liverpool.

“Transposable elements make up more than 70 per cent of the human genome, but until recently were thought not to have any meaningful function,” Professor Koks said.

“Our research showed that these elements, known as the ‘dark genome’, may have a much more significant impact on the pathophysiology of this disease than previously thought.

“Depending on location within the genome, they may speed up or slow disease progression.

“Our previous studies have indicated that these DNA sequences, which can change their position within a genome, have a significant regulatory role and a major disease-causing capability.

“To analyse the variable impacts of transposable elements on different trajectories of Parkinson’s disease, we accessed data from the Parkinson's Progression Markers Initiative. Funded by the Michael J. Fox Foundation, this is a shared databank from one of the largest international longitudinal cohorts of Parkinson’s patients.

“We found that transposable DNA elements may have a negative or positive effect. Some predicted faster progression of the disease, with rapid deterioration of motor or cognitive functions, while others were associated with a slowing of neuronal loss and neurodegeneration.

“This study builds on our other research, contributing to future development of novel approaches for improved diagnosis and more targeted therapies,” Professor Koks said.

Senior author of the paper Professor John Quinn said: “Our body of work over a decade highlights the importance of targeting these elements for therapeutic intervention in the progression of neurodegenerative diseases which is the subject of our current work not only in Parkinson’s Disease but also Motor Neurone Disease. This could include repositioning of drugs from other disease areas in which these elements are implicated in disease progression.”

Other authors of the paper are Dr Abigail Pfaff (Perron Institute and CMMIT, Murdoch University), Lewis Singleton (Perron Institute), and Dr Vivien Bubb (University of Liverpool).

Dr Steven R Goodman, Editor-in-Chief of Experimental Biology and Medicine said: “This fascinating study by Professor Koks and his colleagues demonstrates that the presence or absence of transposable elements controls the progressions trajectory of Parkinson's Disease. It further underscores the importance of rigorous analysis of these genomic elements is essential for considering therapeutic opportunities.”

Experimental Biology and Medicine is a global journal dedicated to the publication of multidisciplinary and interdisciplinary research in the biomedical sciences.

The paper is available here

L-R Dr Abigail Pfaff and Prof Sulev Koks at the Centre for Molecular Medicine and Innovative Therapeutics - Image credit Murdoch University.

Media contact:

Tennille Kroemer, Communications Manager, Perron Institute

Mobile: 0426 044 223



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