Study Identifies New DNA Clues for Parkinson's Disease Risk

Washington, D.C., UNITED STATES

WASHINGTON, June 15, 2022 (GLOBE NEWSWIRE) -- A recently published article in Experimental Biology and Medicine (Volume 247, Issue 11, June, 2022) identifies a potential transcriptional profile to improve our understanding of Parkinson's Disease. The study, led by Dr. Sulev Koks at the Perron Institute for Neurological and Translational Science and Murdoch University (Australia) reports that alterations in the nascent transcription of introns may be diagnostic of both risk and progression of Parkinson's Disease.   

For many years the search for DNA risk factors to specific diseases, including Parkinson's Disease, has focused on the 2% of our genome known as exons that encode the information for proteins. It is now clear the bulk of the DNA risk resides in the other 98% of the genome that determines where, when and for how long exons are produced to generate these proteins. Similarly, research has focused on the measurement of these exons in specific cells, ignoring the bulk of non-exon material that can affect their function. These are known as introns and constitute in the region of 35% of the human genome.

In this study, Dr. Koks and colleagues analyzed these introns and investigated the changes in them over time correlating with Parkinson's disease progression. These investigations showed the importance of highly specific changes within the intronic transcription of Parkinson's Disease. They also provided evidence highlighting the importance of the role introns play in regulating cell function. This creates a new and exciting avenue for developing therapeutics for the progression of Parkinson's disease.

Dr. Koks said, "Our study highlights the importance of introns as potential modulators that regulate cell function by manipulating how exons are utilized in the cell." Koks added that "our work opens a new avenue of genomic research to ask fundamental questions about how the cell works that allow for novel approaches for more targeted therapeutic intervention in Parkinson's disease progression."

Dr. Steven R. Goodman, Editor-in-Chief of Experimental Biology and Medicine, said "Koks et al have demonstrated changes that occur in nascent RNA transcription between the period of diagnosis and three years post diagnosis in Parkinson's Disease. They used blood RNA-seq data from the Parkinson's Progression marker Initiative cohort to study changes in intronic transcription. There work illustrates additional blood-based biomarkers that have the potential to be predictive of risk and diagnostic for progression of Parkinson's disease."

Experimental Biology and Medicine is a global journal dedicated to the publication of multidisciplinary and interdisciplinary research in the biomedical sciences. The journal was first established in 1903. Experimental Biology and Medicine is the journal of the Society of Experimental Biology and Medicine. To learn about the benefits of society membership, visit If you are interested in publishing in the journal, please visit

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