Gene Mutation

Fuatilia
Realistic depiction of ferroptosis in child neurons due to GPX4 mutation, showing lipid peroxide damage and neurodegeneration akin to Alzheimer's.
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Single GPX4 mutation exposes ferroptosis as driver of early childhood dementia

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Researchers in Germany have identified a rare mutation in the GPX4 enzyme that disables its protective role in neurons, allowing toxic lipid peroxides to damage cell membranes and trigger ferroptotic cell death. Studies in patient-derived cells and mice show a pattern of neurodegeneration that resembles changes seen in Alzheimer’s disease and other dementias.

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