Reversing Brain Iron Overload in BPAN by a Natural Small Molecule

Awardee: Young-Ah Seo

Institution: University of Michigan

Grant Amount: $66,366

Funding Period: February 1, 2022 - January 31, 2023


Summary:

The overall goal of this project is to develop new therapeutic strategies that can reduce brain iron overload and iron-induced neurodegeneration in BPAN patients. We have identified that a natural small molecule is exceptionally effective at promoting iron transport. We have now found that iron accumulates in the BPAN cell model and that the resulting iron overload can be mitigated by this small molecule. Building on these preliminary results, this proposal will extensively characterize the capacity for a small molecule to mobilize excess iron from inside cells and will test the overarching hypothesis that small molecule-mediated iron mobilization can mitigate neuronal cell death in BPAN cell models and patient-derived primary fibroblast cells. Completion of the proposed research will advance our fundamental understanding of the mechanistic underpinnings of brain iron overload in BPAN and will build a foundation for the potential therapeutic use of small molecule mobilizers of intracellular iron.

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Unraveling the role of Adiponectin-expressing bone marrow stromal cells in the cellular pathogenesis of Fibrous Dysplasia

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Membrane homeostasis as potential therapeutic angle in Cohen Syndrome