Ankyrin-B regulates cardiomyocyte sarcomere organization and its protein-protein interactions are significantly altered by p.S646F expression

Lower ANKB expression in primary cardiomyocytes from cardiac-specific ANKB heterozygous mice disrupts sarcomere structure, indicating ANKB is required for proper sarcomere development.

• Why it matters: Structural cardiac abnormalities in two multigenerational Gitxsan First Nation families carrying the novel ANKB p.S646F variant suggest ANKB influences cardiomyocyte structural organization.
• What they did: Confocal imaging compared sarcomere organization in primary cardiomyocytes from cardiac-specific ANKB heterozygous (lower ANKB) and full knock-out mice, and unbiased proteomics mapped ANKB protein-protein interactions.
• The result: Proteomics identified a novel ANKB interaction with -actinin-1, and Western blot showed increased -actinin-1 enrichment with ANKB p.S646F; bioinformatics further revealed marked interactome changes linked to cytoskeletal organization and sarcomere structure.

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