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  • [Photo] J.W. Bizzaro • December 14, 2025
    Rare diseases sometimes open windows into everyday biology that we otherwise miss. Take Sedaghatian-type spondylometaphyseal dysplasia (SSMD) as an example. It's a condition so rare it affects only a handful of families worldwide. Tragically, most affected infants die soon after birth, but a few linger long enough to show something striking: their brains deteriorate at breakneck speed in a pattern that echoes severe dementia in the elderly. The entire process traces back to one defective gene: GPX4.

    Source: https://scitechdaily.com/a-tiny-enzyme-flaw-may-explain-how-dementia-begins/

    GPX4 codes for the enzyme glutathione peroxidase 4, which is embedded in neuronal membranes. Its job is to disarm lipid peroxides before they can harm the cell. When the enzyme fails, either because of an inherited mutation or because levels drop over a lifetime, those peroxides multiply unchecked. Membranes essentially oxidize in a runaway chain reaction. The result is ferroptosis: iron-driven cell death where the neuron balloons, bursts, and spills damaging contents that inflame nearby cells. Apoptosis, by comparison, looks tidy – this is messy and can spread.

    Findings like these push us to reconsider Alzheimer's disease itself. For years the field has argued over which protein misfolds first, amyloid-beta plaques or tau tangles, and which one truly drives the damage. Yet the terminal event that kills the neuron may not depend on either. Emerging evidence suggests that ferroptosis could represent a common endpoint, potentially contributing to neurodegeneration. Different insults can start the trouble, but they often finish by wrecking membranes the same way.

    If we interrupt ferroptosis, the cell holds together no matter what sparked the crisis. Work in laboratory animals using agents such as the iron-binding drug deferoxamine or the experimental compound J147 shows this clearly. Neurons stop dying explosively, regain metabolic stability, kick autophagy back into gear, and begin clearing junk while rebuilding connections. Preserving the neuron becomes the priority; tracing the exact upstream culprit matters less once the cell survives.

    RELEVANT DRUGS AND TRIALS

    The "Synthetic Shields" (Geroneuroprotectors):
    • J147 (Curcumin derivative):
      • Mechanism: Targets mitochondrial ATP synthase to reduce oxidative stress (ROS) and boosts BDNF to repair synapses.
      • Status: Has completed FDA Phase 1 (safety) trials in humans; Phase 2 efficacy trials for Alzheimer's are the next step.
    • CMS121 (Fisetin derivative):
      • Mechanism: Inhibits fatty acid synthase (FASN) to alter cell membrane composition, making lipids resistant to peroxidation.
      • Status: In active clinical development (Phase 1 safety profile established); moving toward efficacy testing.
    The Iron Chelators (The "Sledgehammers"):
    • Deferoxamine (Desferal):
      • Mechanism: Physically removes excess iron to stop the reaction that triggers ferroptosis.
      • Trial History: The 1991 Crapper McLachlan study (intramuscular injections) showed a 50% reduction in cognitive decline.
      • Status: Since deferoxamine can no longer be patented, complex delivery methods are being actively investigated.
    • Deferiprone:
      • Mechanism: An oral iron chelator that crosses the blood-brain barrier more easily than deferoxamine.
      • Status: Deferiprone was tested in the "3D Study", which ran from 2018 to 2023. The study authors and subsequent editorial commentaries concluded that the drug failed not because it didn't work, but because it caused "Functional Iron Deficiency" within the neurons.
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