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Article

A rare genetic variant confers resistance to neurodegeneration across multiple neurological disorders by augmenting selective autophagy.

Neuron - 19 Nov 2025

Croce Katherine R, Ng Christopher, Pankiv Serihy, Albarran Eddy, Langfelder Peter, Ramos de Jesus Ana, Duncan Glenn M, Wang Nan, Basile Anna, McHugh Caitlin, Litt Nicole A, Li Alina, Friedman Sophia, Cortes Etty P, Zody Michael C, Yang X William, Ding Jun B, Vonsattel Jean Paul G, Simonsen Anne, Housman David E, Wexler Nancy S, Yamamoto Ai

Abstract excerpt

The study of disease modifiers is a powerful way to identify patho-mechanisms associated with disease. Using the strong genetic traits of Huntington's disease (HD), we identified a rare, single-nucleotide polymorphism (SNP) in WDFY3 associated with a delayed age of onset of up to 23 years. Remarkably, the introduction of the orthologous SNP into mice recapitulates this neuroprotection, significantly delaying...

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Identifiers

PMID: 40945514
DOI: 10.1016/j.neuron.2025.08.018
PMCID: PMC12435916

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EEA1

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