Genomic Transposable Elements Could Modify the Progression of Parkinson Disease
Researchers from a study evaluated how transposable elements were associated with Parkinson disease (PD) subtypes and impact disease trajectory. The study analyzed the variation of transposable elements and the impact on different trajectories of PD. Patient data from the PD Progression Markers Initiative and 5-year follow-up data from patients with PD and whole genome sequencing data was used. A comprehensive genomic screen for the transposable elements in these patients was developed with the provided data. Based on the screens, some transposable elements predicted faster progression of disease, with very fast deterioration of motor or cognitive functions. Depending on the type and position in the genome, elements had either a negative or positive effect. Some elements were associated with a strong and clinically meaningful change in functional PD scores and some were found to be protective and associated with a slower disease progression suggesting a slowing of neuronal loss and neurodegeneration.
Dr. Sulev Koks, head of Genetic Epidemiology Research at Perron Institute for Neurological and Translational Science and the Centre for Molecular Medicine and Innovative Therapeutics at Murdoch University said "Transposable elements are part of the genome which is known as the dark genome. Our study showed that the dark genome may have a much more significant impact on the pathophysiology of complex disease than previously estimated. The elements inside the dark genome could enhance or slow the progression of Parkinson disease and therefore open up new opportunities for precision medicine."
Genomic transposable elements regulate the expression of many genes, orchestrate complex genetic activation where multiple genes are needed for a complex response. Recent evidence suggests that genomic transposable elements have a major pathogenetic effect, with several elements shown to cause disease such as PD.
Dr. Steven R. Goodman, editor-in-chief of Experimental Biology and Medicine states "This fascinating study by Koks and his colleagues demonstrates that the presence or absence of transposable elements controls the progressions trajectory of Parkinson disease. It further underscores the importance of rigorous analysis of these genomic elements is essential for considering therapeutic opportunities."