CAMBRIDGE, Mass. – January 14, 2026 – General Metabolics (GMet), a leading provider of metabolomics and lipidomics solutions for life science research, announced today that its untargeted metabolomics profiling services were used in a study published in the December 2025 issue of JACC: Basic to Translational Science. The work, conducted by teams at Tenaya Therapeutics, GMet, and UCLA Lipidomics, reported new mechanistic insights into arrhythmogenic right ventricular cardiomyopathy (ARVC), a heart condition predominately caused by mutations in the PKP2 gene. Overall, this study showed that functional PKP2 protein maintains the energy metabolism and desmosome functions of cardiac tissue, which is disrupted in the context of PKP2 mutation.
PKP2-driven ARVC is an inherited heart condition that can cause dangerous heart rhythms and gradual weakening of the heart. PKP2 is part of a complex called the desmosome that normally helps heart cells remain structurally and electrically connected in healthy heart tissue. When PKP2 expression level is reduced due to mutation, those connections break down, leading to cell damage, inflammation, and metabolic perturbations—changes that clinically manifest as irregular heartbeats, scarring, and heart failure. This study utilized a PKP2-deficient ARVC mouse model and human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CM) to demonstrate through integrated metabolomics and transcriptomics that the mouse heart and iPSC-CM responded to AAV9:PKP2 treatment, restoring a complex multi-omics network of cardiac energy metabolism in mouse heart, improving bioenergetics in parallel with restored desmosome function in cardiomyocytes.
“Our findings reveal an intrinsic cellular connection between PKP2 and the heart cells’ ability to generate energy. By restoring PKP2 expression, we observed improvement of both the structural integrity and the bioenergetics of heart cells,” said study principal investigator Jane Yang. “This work adds impaired cardiac energy metabolism to the understanding of ARVC disease mechanisms and brings new perspectives on monitoring responses to energy demands and metabolic stress in ARVC patients.”
“This research underscores the critical role of cardiac cellular energy metabolism in cardiac health—and the power of multi-omics to reveal it,” said Edward Driggers, Ph.D., Co-founder and CEO of General Metabolics. “By linking PKP2 restoration to improved metabolic function, the study opens new translational frontiers for monitoring ARVC disease progression and validates the importance of integrated metabolomic insights in understanding disease mechanisms and advancing precision medicine.”
Download the paper for free at: https://www.jacc.org/doi/10.1016/j.jacbts.2025.101428
To learn more about GMet’s multi-omics solutions, please visit: https://generalmetabolics.com/our-services/metabolomics-services/multi-omics/
About General Metabolics
General Metabolics (GMet) provides the most efficient suite of metabolomics services in the industry, empowering life sciences researchers with rapid, high-impact insights. GMet’s platform democratizes access to metabolomics and lipidomics worldwide, seamlessly integrating into diverse research applications to streamline complex analyses and deliver essential phenotypic context. Located in Boston’s biotech corridor, GMet’s offerings include ultra-high throughput metabolome profiling, LCMS-based metabolomics, lipidomics, and a network-based integrated multi-omics platform, supporting studies from bench to population scale.
Contact:
Ed Driggers
[email protected]