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Identification of Circulating Endocan-1 and Ether Phospholipids as Biomarkers for Complications in Thalassemia
Amy Botta1, Anik Forest2, Caroline Daneault2
1Department of Biology, York University, Toronto, ON M3J1P3, Canada.
Insights
Transfusion-dependent thalassemia (TDT) patients exhibit a distinct lipidomic profile, differing from healthy individuals. These lipid changes correlate with clinical factors and may reveal new therapeutic targets for TDT-related heart conditions.
Area of Science:
- Biochemistry
- Cardiovascular Medicine
- Metabolomics
Background:
- Beta-thalassemia is a common genetic disorder associated with significant cardiac complications.
- Cardiomyopathy is a major concern in transfusion-dependent thalassemia (TDT) patients despite therapeutic advancements.
Purpose of the Study:
- To identify unique circulating lipidomic signatures in TDT patients.
- To correlate these lipid profiles with clinical parameters and explore potential biomarkers for cardiometabolic disease.
Main Methods:
- An untargeted, discovery-based lipidomic workflow was employed to analyze serum samples.
- Statistical analyses, including Q-value thresholding, were used to identify significant lipid features.
- Levels of specific cardiometabolic disease biomarkers were quantified.
Main Results:
- A unique lipidomic signature comprising 387 features differentiated TDT patients from healthy controls (Q < 0.01).
- TDT patients showed elevated triacylglycerols and long-chain acylcarnitines, with decreased ether phospholipids, plasmalogens, sphingomyelins, and cholesterol esters.
- Lipid subclasses correlated with blood parameters, iron status, and heart function; lipocalin-2 and endocan-1 were elevated in TDT patients.
Conclusions:
- The study reveals distinct lipidomic characteristics in TDT patients, mirroring features of cardiometabolic diseases.
- These findings highlight potential new avenues for developing diagnostic biomarkers and therapeutic strategies for TDT-associated cardiomyopathy.
Abstract:
Despite advances in our knowledge and attempts to improve therapies, β-thalassemia remains a prevalent disorder with increased risk for the development of cardiomyopathy. Using an untargeted discovery-based lipidomic workflow, we uncovered that transfusion-dependent thalassemia (TDT) patients had a unique circulating lipidomic signature consisting of 387 lipid features, allowing their significant discrimination from healthy controls (Q-value < 0.01). In particular, TDT patients had elevated triacylglycerols and long-chain acylcarnitines, albeit lower ether phospholipids or plasmalogens, sphingomyelins, and cholesterol esters, reminiscent of that previously characterized in cardiometabolic diseases resulting from mitochondrial and peroxisomal dysfunction. Discriminating lipid (sub)classes correlated differentially with clinical parameters, reflecting blood (ether phospholipids) and iron (cholesterol ester) status or heart function (triacylglycerols). We also tested 15 potential serum biomarkers related to cardiometabolic disease and found that both lipocalin-2 and, for the first time, endocan-1 levels were significantly elevated in TDT patients and showed a strong correlation with blood parameters and three ether diacylglycerophosphatidylcholine species. In conclusion, this study identifies new characteristics of TDT patients which may have relevance in developing biomarkers and therapeutics.
