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Coronary artery disease remains an epidemiological challenge as global morbidity is not declining despite the fact that the risk factors are well known. Metabolomic derivatives of atherosclerosis formation have recently gained attention as a possible non-traditional risk factor. The aim of this study was to find potential differences in acetyl-carnitine chain serum concentrations between epicardial artery disease patients and a control group. There were 41 patients (25 men and 16 women), with a median (Q1–Q3) age of 69 (63–73) years, enrolled in the prospective metabolomic analysis. They were divided into two groups based on cine angiography results confirming epicardial artery disease (group 1, n = 25 (61%)) or showing characteristics corresponding to normal angiograms (group 2, n = 16 (39%)). The quantitation of metabolites was performed based on the coronary angiograms. Significant differences related to the plasma concentration of L-Acetyl-carnitine (7.49 (4.79–9.23) µM vs. 9.36 (8.57–10.23) µM (p = 0.009)), Decanoyl-carnitine (0.00 (0.00–0.37) µM vs. 0.36 (0.19–0.44) µM (p = 0.040)), C12:1-carnitine (0.17 (0.14–0.20) µM vs. 0.22 (0.18–0.24) µM (p = 0.008)), trans-2-Dodecenoyl-carnitine (0.10 (0.07–0.13) µM vs. 0.13 (0.10–0.15) µM (p = 0.002)), cis-5-Tetradecenoyl-carnitine (0.03 (0.02–0.04) µM vs. 0.04 (0.03–0.05) µM (p = 0.043)), and 3,5-Tetradecadien-carnitine (0.16 (0.14–0.18) µM vs. 0.18 (0.17–0.27) µM (p = 0.007)) in group 1 vs. group 2 were noted. Increased plasma levels of acetyl-carnitine may be characteristic of patients with normal coronary angiograms. Full article

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a long-chain fatty acid oxidation disorder that manifests as either a severe phenotype associated with cardiomyopathy, a hypoglycemic phenotype, or a myopathic phenotype. As the hypoglycemic phenotype can cause sudden infant death, VLCAD deficiency is included in newborn screening (NBS) panels in many countries. The tetradecenoylcarnitine (C14:1) level in dried blood specimens is commonly used as a primary marker for VLCAD deficiency in NBS panels. Its ratio to acetylcarnitine (C2) and various other acylcarnitines is used as secondary markers. In Japan, tandem mass spectrometry-based NBS, initially launched as a pilot study in 1997, was introduced to the nationwide NBS program in 2013. In the present study, we evaluated levels of acylcarnitine with various chain lengths (C18 to C2), free carnitine, and their ratios in 175 infants who tested positive for VLCAD deficiency with C14:1 and C14:1/C2 ratios. Our analyses indicated that the ratios of C14:1 to medium-chain acylcarnitines (C10, C8, and C6) were the most effective markers in reducing false-positive rates. Their use with appropriate cutoffs is expected to improve NBS performance for VLCAD deficiency. Full article

Athletic performance is a multifactorial trait influenced by a complex interaction of environmental and genetic factors. Over the last decades, understanding and improving elite athletes’ endurance and performance has become a real challenge for scientists. Significant tools include but are not limited to the development of molecular methods for talent identification, personalized exercise training, dietary requirements, prevention of exercise-related diseases, as well as the recognition of the structure and function of the genome in elite athletes. Investigating the genetic markers and phenotypes has become critical for elite endurance surveillance. The identification of genetic variants contributing to a predisposition for excellence in certain types of athletic activities has been difficult despite the relatively high genetic inheritance of athlete status. Metabolomics can potentially represent a useful approach for gaining a thorough understanding of various physiological states and for clarifying disorders caused by strength–endurance physical exercise. Based on a previous GWAS study, this manuscript aims to discuss the association of specific single-nucleotide polymorphisms (SNPs) located in the MYBPC3 gene encoding for cardiac MyBP-C protein with endurance athlete status. MYBPC3 is linked to elite athlete heart remodeling during or after exercise, but it could also be linked to the phenotype of cardiac hypertrophy (HCM). To make the distinction between both phenotypes, specific metabolites that are influenced by variants in the MYBPC3 gene are analyzed in relation to elite athletic performance and HCM. These include theophylline, ursodeoxycholate, quinate, and decanoyl-carnitine. According to the analysis of effect size, theophylline, quinate, and decanoyl carnitine increase with endurance while decreasing with cardiovascular disease, whereas ursodeoxycholate increases with cardiovascular disease. In conclusion, and based on our metabolomics data, the specific effects on athletic performance for each MYBPC3 SNP-associated metabolite are discussed. Full article