Background

Over 55 million people worldwide live with dementia, the main cause of dependency among the elderly. Alzheimer’s disease accounts for over 60% of dementia cases. The healthcare costs are staggering: US$ 1.3 trillion yearly cost of dementia, half of which is represented by informal care.

Yet, it is estimated that up to 75% of people suffering from dementia do not receive a diagnosis, hence no adequate treatment or specialised care. Alzheimer's disease (AD), like other neurodegenerative diseases, is very expensive to diagnose. People over 65 require a CT or an MRI. From Quebec, Canada, to Bucharest, Romania, the price of getting a CT investigation is in the region of EUR 200, not including the cost of doctors’ visits (family practitioner, neurologist) and blood work. The cost of an MRI investigation is more than double. In countries such as Romania, there is the option to wait several months for free imaging investigations, but this is complicated and difficult to obtain because there is no national dementia plan, therefore funds may run out very quickly as national healthcare plans are prioritised. This situation is far from unique: 75% of WHO member states do not have a national dementia plan, which means funds are not specifically allocated to provide free access to diagnosis and treatment plans.

Needless to say, a cure for AD is desperately needed. A lot of research has been done in the past few years, with mixed results. For example, during 2021 there were 152 trials assessing new therapies for AD: 28 treatments in Phase 3 trials, 74 in Phase 2, and 24 in Phase 1. The majority of drugs in trials (82.5%) targeted the underlying biology of AD with the intent of disease modification; 10.3% were putative cognitive enhancing agents; and 7.1% were drugs being developed to reduce neuropsychiatric symptoms (Cummings, J. et al, 2021). The majority of drugs targeting the underlying biology of AD were aimed at the amyloid-β (Aβ) pathway. Breakthroughs in molecular medicine have positioned the amyloid-β (Aβ) pathway at the center of AD pathophysiology (Hampel, H. et al, 2021). While the detailed molecular mechanisms of the pathway and the spatial-temporal dynamics leading to synaptic failure, neurodegeneration, and clinical onset are still under investigation, the established biochemical alterations of the Aβ cycle are a core biological hallmark of AD. However, the results following patient use were not as promisiong as it was hoped.

Further evidence suggests that Aβ plays a role in triggering an imbalance in cellular signaling that leads to tau hyperphosphorylation. Thus tau became a target of disease modification therapies as well. Tau is a microtubule-associated protein, the main component of the intracellular filamentous inclusions that are involved in neurodegenerative diseases known as tauopathies, including Alzheimer disease (AD) (Gao Y. et al, 2018). In healthy brains, tau contributes to preserving the structural integrity of the neuron's axon, ensuring the proper transport of essential nutrients and signals throughout the cell. In affected brains, hyperphosphorylated or abnormally-phosphorylated tau proteins detach from their microtubules (which make possible the axonal transport), misfold and clump together in intraneuronal neurofibrillary tau tangles, which are stable constructs, difficult to break. Tau tangles are toxic and lead to cell inflammation and eventual cell death (Kaštelan et al., 2023).

Our Solution

PROMNESIS (meaning pro-memory, from the Greek word mnesis = memory) is a modular synthetic biology therapeutic system against Alzheimer’s disease, combining (1) extracellular clearance of toxic tau seeds, (2) intracellular repair - reverses tau hyperphosphorylation inside neurons, and (3) conditional activation as a safeguard.

The treatment is designed as a disease-modifying intervention, not symptomatic relief, and falls between gene therapy (logic-controlled expression), targeted protein degradation (LYTACs), and precision optogenetics (light-controlled enzyme activity).

How It Works: An Overview

Focus on tau tangles precursors. Following our DBTL iterations, which integrated the ample feedback received from researchers and clinicians, we decided to focus our therapy on tau. Since clinical trials showed little promise when targeting tau tangles directly, we turned our attention to tau seeds and intracellular hyperphosphorylated tau (McDade et al., 2021). These two forms of tau are precursors of tau tangles.

Tau seeds. Tau seeds are the tiny starter pieces of tau tangles, which are spreading the tau pathology from one cell to another. A small misfolded fragment of tau (the seed) would bump into normal tau and cause the latter to misfold too. If those misfolded pieces stick together, they would form tangles (Brunello et al., 2019).

Hyperphosphorylated tau. At the same time, in AD pathology, intracellular tau gets hyperphosphorylated, i.e. it has too many phosphate groups attached. Because of this “extra-baggage”, tau detaches from microtubules and becomes free tau in the cell. The free tau misfolds and aggregates into large, insoluble structures called neurofibrillary tangles, leading to neuronal dysfunction and cell death (Liu et al., 2022).

PROMNESIS primary target. The tau tangles described above are key pathological features of AD. Rather than targeting the tau tangles, our therapy is designed to detect the tau seeds and eliminate them - extracellular clearance of toxic tau seeds, as well as deliver intracellular repair - reversing tau hyperphosphorylation inside neurons. These two elements are the primary target of our therapy.

PROMNESIS secondary target. The secondary target of PROMNESIS therapy is represented by the use of AD stress biomarkers (oxidative stress, unfolded protein response, neuroinflammation) as conditional inputs. This ensures that the therapeutic modules are activated only under AD stress conditions, enhancing both safety and specificity of the treatment.

Impact

While considering the feasibility and responsibility of our project, we believe there are three broad ways in which PROMNESIS ideas may have a positive impact in the future.

For patients: PROMNESIS development could continue in order to further test its capacity to provide a disease-modifying therapy. This may shift the drug research and development pipeline away from anti-amyloid drugs, which showed limited promise, to anti-tau-precursors precision therapeutics, which could circumvent the problems identified in tau-tangle targeting therapies.

For medicine. Tau seeds are central in several neurodegenerative diseases, therefore perfecting the mechanism of tau seed elimination would be beneficial for those as well. In addition, logic gates can be rewired to sense disease-specific bio-markers for other pathologies. As a result, PROMNESIS may become a modular therapy platform for different neurodegenerative diseases.

Synthetic biology application: our therapeutic is a combination of logic gates, degradation chimaeras and optogenetics. We are excited about this multilayered therapeutic design, because of its theoretical precision and built-in safety that could be used in other healthcare applications.

Key References

Alzheimer’s Disease International (2021- 2025). World Alzheimer Report. Retrieved from:
https://www.alzint.org/resource/world-alzheimer-report-2021/ and
https://www.alzint.org/resource/world-alzheimer-report-2025/

Brunello, C.A., Merezhko, M., Uronen, RL. et al. Mechanisms of secretion and spreading of pathological tau protein. Cell. Mol. Life Sci. 77, 1721–1744 (2020). Retrieved from:
https://doi.org/10.1007/s00018-019-03349-1

Cummings J, Lee G, Zhong K, Fonseca J, Taghva K. Alzheimer's disease drug development pipeline: 2021. Alzheimers Dement (N Y). 2021 May 25;7(1):e12179. doi: 10.1002/trc2.12179. PMID: 34095440; PMCID: PMC8145448. Retrieved from:
https://pubmed.ncbi.nlm.nih.gov/34095440/

Gao YL, Wang N, Sun FR, Cao XP, Zhang W, Yu JT. Tau in neurodegenerative disease. Ann Transl Med. 2018 May;6(10):175. doi: 10.21037/atm.2018.04.23. PMID: 29951497; PMCID: PMC5994507. Retrieved from:
https://pubmed.ncbi.nlm.nih.gov/29951497/

Hampel, H., Hardy, J., Blennow, K. et al. The Amyloid-β Pathway in Alzheimer’s Disease.Mol Psychiatry 26, 5481–5503 (2021). Retrieved from:
https://doi.org/10.1038/s41380-021-01249-0

Kaštelan, S., Braš, M., Pjevač, N., Bakija, I., Tomić, Z., Pjevač Keleminić, N., & Gverović Antunica, A. (2023). Tear Biomarkers and Alzheimer’s Disease. International Journal of Molecular Sciences, 24(17), 13429. Retrieved from:
https://doi.org/10.1038/s41380-021-01249-0

Liu X, Ye M and Ma L (2022). The emerging role of autophagyand mitophagy in tauopathies: From pathogenesis to translational implications in Alzheimer’s disease. Frontiers in Aging Neuroscience. Retrieved from:
https://www.frontiersin.org/journals/aging-neuroscience/articles/10.3389/fnagi.2022.1022821/full

McDade, E., Llibre-Guerra, J.J., Holtzman, D.M. et al. The informed road map to prevention of Alzheimer Disease: A call to arms. Mol Neurodegeneration 16, 49 (2021). Retrieved from:
https://doi.org/10.1186/s13024-021-00467-y