WCN26-5934 A SAMD9L missense mutation drives autosomal dominant cystic kidney disease and c-Myc activation in mice

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Key Points

Investigate the effects of a SAMD9L missense mutation on kidney disease and c-Myc activation in a mouse model.
Utilized live imaging to assess lysosomal vesicle motility in cells with INF2 variants.
Conducted SEM analysis on INF2 variant cells to evaluate ER morphology and cytoskeletal organization.
Analyzed mitochondrial fragmentation and actin-microtubule network disruptions in various disease variants.
The INF2 variant cells exhibited marked changes in ER morphology, including a sheet-like appearance.
Lysosomal vesicle motility was significantly reduced in INF2 variant expressing cells (p<0.0001).
Cytoskeletal disruptions were evident in INF2 variants, with severe implications for organelle interactions.

This research reveals that a SAMD9L mutation activates c-Myc and drives cystic kidney disease in mice, suggesting a shared pathogenic mechanism.

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Hireed et al. (2026) studied this question.

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