Defining the impact of the iPSC-derived human microglial secretome in Alzheimer's disease employing ER-mediated TurboID proximity labelling in vivo. 01/11/2024 - 31/10/2026

Abstract

The discovery of strong microglial genetic risk factors in Alzheimer's Disease (AD) increased the interest towards the functional role of these cells in disease. Recent efforts describe the shift in microglial transcriptional states as they are believed to be crucial in the understanding of pathology. However, the outstanding challenge remains the translation from phenotype to function. Combining cutting-edge TurboID proximity ligation with xenotransplantations of human iPSC-derived microglia into the mouse brain (MIGRATE) opens an exceptional opportunity to study one of the main microglial functions in vivo: the secretion of molecules and its impact on disease progression. I will study the microglial secretome (native and in TREM2R47H) in amyloid and tau models. I already developed an endoplasmic reticulum (ER) baited TurboID that labels proteins destined for conventional secretion, and expressed in iPSC prior to differentiation and transplantation. Employing precipitation and mass spectrometry of biotinylated proteins, I will map the endogenous secretome of human microglia in response to pathology and in clinically relevant genetic mutations, in vivo. I will also validate my findings in human CSF and using iPSC-derived neurons. I expect to infer the implication of the microglial secretome in relation to pathology and deconstruct the microglial response to the main pathological hallmarks in AD. My findings will open avenues to new biomarker and therapeutic applications.

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Project type(s)

  • Research Project

Deciphering the contribution of progranulin deficient human microglia in the initiation and modification of frontotemporal dementia. 01/10/2022 - 30/09/2026

Abstract

Frontotemporal dementia (FTD) is the second most common form of dementia. It presents a heterogenous range of neuropathological hallmarks, including aberrant accumulation of TAU, FUS or TDP-43. FTD is also accompanied by inflammatory changes in the brain. Recent data place microglia, the immune cells of the brain, under the spotlight as central player in determining the susceptibility for developing FTD. In this proposal, we aim to define what is the role of one of the most relevant genetic causes of FTD, progranulin deficiency, in microglia using a combination of in vitro and in vivo approaches. We plan to generate independent series of genetically modified stem cells to partially or completely delete progranulin. Then, we will differentiate these cells into microglia to 1) study their basal alterations in in vitro systems, and 2) xenotransplant them in the mouse brain following our MIGRATE protocol. Using these cutting-edge in vivo systems, we expect to determine whether progranulin deficient microglia is sufficient to induce or can significantly modify FTD-like pathology. This project has major implications for our understanding of the cellular and molecular basis of FTD and will open new avenues for tailored treatments to tackle FTD progression.

Researcher(s)

Research team(s)

Project type(s)

  • Research Project