VUGENE highlights a study on how epigenetic inactivation in the appendix may play a role in Parkinson’s disease (PD). Researchers used multiomics to explore the genes of the autophagy-lysosomal pathway (ALP) and how their epigenetic modifications, transcriptomic, and proteomic changes may contribute to Parkinson’s development.
Key insights from the study:
Lysosomal and autophagy dysfunction in PD: The PD appendix showed widespread epigenetic silencing of ALP genes, leading to downregulated expression and impaired function within the pathway.
Brain-appendix connection: Epigenetic ALP disruptions in the PD appendix were also detected in the PD brain, particularly in the olfactory bulb and prefrontal cortex neurons, linking gut and brain pathology.
Molecular changes correlate across tissues: Protein abundance changes in the PD appendix and brain were significantly correlated, with ALP proteins displaying strong concordance in fold change in both, indicating systemic dysregulation.
Gut inflammation and PD risk genes: In mouse models, chronic gut inflammation triggered DNA methylation changes in ALP genes, known to be associated (GWAS) with PD risk. Inflammatory responses worsened in the presence of α-synuclein overexpression, further altering ALP gene regulation.
In the video, Juozas Gordevičius, the first author of the study, explains how VUGENE team helps scientists uncover new findings and achieve publication-ready results.
Juozas Gordevičius, Peipei Li, Lee L. Marshall, Bryan A. Killinger, Sean Lang, Elizabeth Ensink, Nathan C. Kuhn, Wei Cui, Nazia Maroof, Roberta Lauria, Christina Rueb, Juliane Siebourg-Polster, Pierre Maliver, Jared Lamp, Irving Vega, Fredric P. Manfredsson, Markus Britschgi & Viviane Labrie (2021). Epigenetic inactivation of the autophagy–lysosomal system in appendix in Parkinson’s disease. Nature Communications, vol 12 (1).
Read full article: Link
Written by: Milda Milčiūtė
Cover image credits: amazing studio / Adobe Stock
