A Slc5a6 Deficient Mouse Model Reveals a Metabolically Driven Dilated Cardiomyopathy with Therapeutic Potential for Vitamin-Based Intervention
Millie Fullerton, Lauren C. Phillips, Rachael E. Redgrave, Luke Spray, Vincent Haufroid, George Merces, Scott T. Kerridge, Gavin D. Richardson, Nathalie Mercier, Dominique Roland, Rebecca Crossley, Andrew D.H. Morgan, Joseph P. Dewulf, John Burn, Simon D. Bamforth, Helen M. Phillips
This study shows that SLC5A6 deficiency causes dilated cardiomyopathy in mice, which can be prevented by vitamin supplementation, mirroring clinical outcomes in patients.
JCI Insight · Jun 2, 2026Peer-reviewedGenetics