Human and zebrafish data corroborate gene x gene interactions in ameliorating Duchenne muscular dystrophy disease progression

In the United Dystrophinopathy Project cohort (N = 419) with mutations presumed to preclude residual dystrophin, 6 gene pairs show strong evidence of interaction effects on loss of ambulation.

• Why it matters: Gene-gene interactions could explain why Duchenne muscular dystrophy progression varies among patients, and prior modifier signals needed cross-system validation.
• What they did: The study reanalyzed UDP data to test for interaction effects among candidate modifiers and then used zebrafish to examine one interacting pair, MAN1A1 and ACTN3.
• The result: In zebrafish, MAN1A1–ACTN3 interaction shows strong evidence of an interaction effect with muscle organization rescued to nearly wild-type levels, supporting the UDP interaction signal.

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