Project ID NS-MH2026_15

ThemeNS-MH

Co Supervisor 1A Dr Bart Tummers Faculty of Life Sciences & Medicine, School of Immunology & Microbial Sciences, Department of Inflammation BiologyEmail

Co Supervisor 1B Dr Frank Hirth Institute of Psychiatry, Psychology & Neuroscience, School of Neuroscience, Department of Basic & Clinical NeuroscienceEmail

Accumulating Alpha-Synuclein as a Neuronal Danger Signal: The Roots of Inflammation in Parkinson’s Disease

Parkinson’s Disease (PD) and Dementia with Lewy Bodies (DLB) are devastating neurodegenerative diseases, characterised by the accumulation and build-up of the protein alpha-synuclein (aSyn) into Lewy body aggregates. aSyn accumulation causes inflammation and, eventually, the progressive loss of brain cells. But what triggers this harmful cascade remains unclear.

This PhD project challenges the long-standing view that inflammation is merely a consequence of dying neurons. Instead, our unpublished findings suggest that neurons themselves detect aSyn accumulation as a “danger signal,” and activate immune responses long before clinical symptoms appear. We believe these early events could hold the key to preventing or slowing disease progression by protecting remaining healthy neurons after a patient is diagnosed. This project aims to identify and characterise these early immune triggers, with the goal of uncovering new targets for therapeutic intervention.

You will join an interdisciplinary team at the interface of neuroscience, immunology, and genetics. Using human neuronal cell models, you will define the immune pathways activated by pathogenic aSyn. These findings will be tested in animal models and extended to patient-derived neurons and brain tissue. AI and machine learning will help analyse complex multi-omics datasets and uncover key regulators of disease.

Training and Approach:
Year 1: Use RNA-seq and proteomics in human neuronal cells (SH-SY5Y) expressing wild-type or mutant aSyn to identify innate immune pathways upregulated in response to pathogenic aSyn. Validate key hits using CRISPR and targeted assays.

Year 2: Manipulate key pathways in Drosophila models of synucleinopathy and assess effects on behaviour, brain inflammation, and neurodegeneration.

Year 3: Extend findings to the human context by analysing iPSC-derived neurons and post-mortem brain samples. Stratify patient data using AI models to link immune activation with disease stage and genetic risk.

Year 4: Finalise data analysis, write manuscripts, and prepare the thesis. Explore translational potential with clinical collaborators at the Karolinska Institutet in Sweden.

3-month rotation project: Use SH-SY5Y cells expressing patient-derived aSyn variants to profile inflammatory responses by RT-qPCR, ELISA, western blotting, and microscopy. The rotation project offers a springboard into the full PhD project.

Skills and techniques: RNA-seq, proteomics, CRISPR, cell culture, microscopy, animal behaviour, and bioinformatics (including AI).

Significance:
By investigating how neurons themselves trigger inflammation, this project aims to redefine the earliest molecular events in PD and DLB. The findings could identify new therapeutic targets to intervene before irreversible damage occurs, offering insights for disease-modifying treatments.

Representative Publications

1. The evolution of regulated cell death pathways in animals and their evasion by pathogens. Tummers B & Green DR. 2022. Physiological Reviews. DOI: 10.1152/physrev.00002.2021 2. The interaction between RIPK1 and FADD controls perinatal lethality and inflammation. Tummers B, Rodriguez DA, Shaw JJP, Quarato G, Weinlich R, Cripps J, Fitzgerald P, Janke LJ, Pelletier S, Crawford JC, and Green DR. 2024. Cell Reports. DOI: 10.1016/j.celrep.2024.114335 3. Caspase-8-dependent inflammatory responses are controlled by its adapter, FADD, and necroptosis. Tummers B, Mari L, Guy CS, Heckmann BL, Rodriguez DA, Rühl S, Moretti J, Crawford JC, Fitzgerald P, Kanneganti TD, Janke LJ, Pelletier S, Blander JM, and Green DR. 2020. Immunity. 2020. DOI: 10.1016/j.immuni.2020.04.010

“1. Alpha-synucleinopathy reduces NMNAT3 protein levels and neurite formation that can be rescued by targeting the NAD+ pathway. Parsons RB, Kocinaj A, Ruiz Pulido G, Prendergast SA, Parsons AE, Facey PD, Hirth F. 2022. Human Molecular Genetics. DOI: 10.1093/hmg/ddac077. 2. Presynaptic accumulation of α-synuclein causes synaptopathy and progressive neurodegeneration in Drosophila. Bridi JC, Bereczki E, Smith SK, Poças GM, Kottler B, Domingos PM, Elliott CJ, Aarsland D,Hirth F. 2021. Brain Communications. DOI: 10.1093/braincomms/fcab049. 3. Mechanisms of α-Synuclein Induced Synaptopathy in Parkinson’s Disease. Bridi JC, Hirth F. 2018. Frontiers in Neuroscience. DOI: 10.3389/fnins.2018.00080”