Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models
Summary
Our study expands the genetic and clinical spectrum of PPCS deficiency disorder, identifying six new cases with diverse phenotypes. Functional investigations reveal reduced CoA levels and dysfunction in patient-derived cardiac cells. Pantethine treatment shows promise in partially rescuing DCM phenotypes, both in vitro and in patients. However, complete reversal may require early intervention. These findings underscore the importance of timely diagnosis and treatment in PPCS DD. Future research should focus on optimizing pantethine supplementation and exploring additional therapies to enhance CoA levels and cardiac function in affected individuals. © 2025. The Author(s).
| Authors | Zhang F, Dorn T, Gnutti B, Anikster Y, Kuebler S, Ahrens-Nicklas R, Gosselin R, Rahman S, Durst R, Zanuttigh E, Güra MA, Poch CM, Meier AB, Laugwitz KL, Schüller HJ, Messias AC, Sibon OC, Finazzi D, Rippert A, Li D, Truxal K, Nandi D, Lampert BC, Yeo M, Gardham A, Nissan B, Horowitz Cederboim S, Moretti A, Iuso A |
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| Journal | Communications medicine |
| Publication Date | 2025 Jul 31;5(1):323 |
| PubMed | 40745475 |
| PubMed Central | PMC12313872 |
| DOI | 10.1038/s43856-025-01017-z |