Metabolites最新文献

{"title":"Management of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in Pregnancy.","authors":"Matthew A Shear, Allie LaTray, Irene J Chang, Annalisa Post, Renata C Gallagher","doi":"10.3390/metabo15070432","DOIUrl":"https://doi.org/10.3390/metabo15070432","url":null,"abstract":"<p><p>Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric acidemia/glutaric aciduria type II (GA II), is an inborn error of fatty acid, amino acid, and choline metabolism. The chronic management of MADD involves both dietary fat and protein restriction to reduce the substrates of the dehydrogenases affected, the avoidance of prolonged fasting as in any fat metabolism disorder, and monitoring for potential complications. Due to its rarity, there is little published experience on the management of MADD in pregnancy. Herein, we report the successful management of a pregnancy in a patient with late-onset or type III MADD, with considerations for preconception, antepartum, intrapartum, and postpartum care.</p>","PeriodicalId":18496,"journal":{"name":"Metabolites","volume":"15 7","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurotrophins and Proneurotrophins as Biomarkers for Overactive Bladder Syndrome in Aging Females.","authors":"Claudia Covarrubias, Philippe G Cammisotto, Lysanne Campeau","doi":"10.3390/metabo15070429","DOIUrl":"https://doi.org/10.3390/metabo15070429","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Overactive bladder (OAB), common in elderly women, involves urgency, frequency, and nocturia, with complex phenotypes. The use of neurotrophins as non-invasive urinary biomarkers has been previously explored. The objective of this study was to assess the diagnostic and therapeutic utility of urinary biomarkers in a Canadian population of aging female OAB patients. <b>Methods</b>: We conducted a single-center prospective study of aging female patients diagnosed with OAB and age-matched healthy controls, where we conducted pre- and post-treatment assessments using a combination of clinical questionnaires, voiding diaries, and urinary biomarkers nerve growth factor (NGF), proform of NGF (proNGF), brain-derived neurotrophic factor (BDNF), proform of BDNF (proBDNF), and neurotrophin receptor p75 extracellular domain (p75^ECD)) quantified using ELISA. Baseline and post-treatment urinary biomarker levels in OAB patients were compared with those of controls. <b>Results</b>: OAB patients and controls at baseline displayed significant differences in neurotrophin levels and in their ratios of mature/precursors. In the post-treatment OAB cohort, only NGF and proNGF exhibited significant improvement correlating with clinical symptom relief. Biomarkers in non-responders remained unchanged, suggesting heterogeneity in therapeutic response. <b>Conclusions</b>: Urinary neurotrophins show promise as non-invasive diagnostic markers of OAB and monitoring treatment response in aging female patients. While this study focused on patients broadly diagnosed with OAB, future research should aim to classify OAB subtypes-such as those based on urodynamic studies or underlying pathophysiology-to better understand how urinary neurotrophins can differentiate between mechanisms like detrusor overactivity, detrusor underactivity, or bladder outlet obstruction. This will enhance their relevance in guiding personalized treatment strategies and predicting outcomes.</p>","PeriodicalId":18496,"journal":{"name":"Metabolites","volume":"15 7","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708047","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Metabolomics in Breast Cancer: From Biomarker Discovery to Personalized Medicine.","authors":"Rosa Perestrelo, Catarina Luís","doi":"10.3390/metabo15070428","DOIUrl":"https://doi.org/10.3390/metabo15070428","url":null,"abstract":"<p><p>Breast cancer (BC) is a highly heterogeneous disease with distinct molecular subtypes, each exhibiting unique metabolic adaptations that drive tumor progression and therapy resistance. Metabolomics has emerged as a powerful tool for understanding cancer metabolism and identifying clinically relevant biomarkers guiding personalized therapeutic strategies. Advances in analytical techniques such as mass spectrometry (MS) and nuclear magnetic resonance (NMR) spectroscopy have enabled the identification of metabolic alterations associated with BC initiation, progression, and treatment response (dysregulated glycolysis, lipid metabolism, amino acid utilization, and redox homeostasis). This review aims to provide a comprehensive overview of the role of metabolomics in BC research, focusing on its applications in identifying metabolic biomarkers for early diagnosis, prognosis, and treatment response. It underscores how metabolomic profiling can unravel the metabolic adaptations of different BC subtypes, offering insights into tumor biology and mechanisms of therapy resistance. Ultimately, it highlights the promise of metabolomics in driving biomarker-guided diagnostics and the development of metabolically informed, personalized therapeutic strategies in the era of precision medicine.</p>","PeriodicalId":18496,"journal":{"name":"Metabolites","volume":"15 7","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased Lyso-Gb1 Levels in an Obese Splenectomized Gaucher Disease Type 1 Patient Treated with Eliglustat: Unacknowledged Poor Compliance or Underlying Factors.","authors":"Evelina Maines, Roberto Franceschi, Giacomo Luppi, Giacomo Marchi, Giovanni Piccoli, Nicola Vitturi, Massimo Soffiati, Annalisa Campomori, Silvana Anna Maria Urru","doi":"10.3390/metabo15070427","DOIUrl":"https://doi.org/10.3390/metabo15070427","url":null,"abstract":"<p><p>Eliglustat (Cerdelga^®) is a potent and specific inhibitor of the enzyme glucosylceramide synthase and serves as a substrate reduction therapy for adult patients with Gaucher disease type 1 (GD1). It prevents the accumulation of several lipids, including glucosylsphingosine (also known as Lyso-Gb1). In addition to its role in diagnostics, Lyso-Gb1 has been proven to be a reliable biomarker for assessing disease severity and monitoring treatment efficacy. We present the case of an obese, splenectomized GD1 patient on long-term enzyme replacement therapy (ERT) who reported worsening fatigue and showed a progressive increase in Lyso-Gb1 levels after switching treatment from ERT to eliglustat. We provide a discussion of the potential clinical factors contributing to this outcome. As seen with ERT, Lyso-Gb1 levels during eliglustat treatment appear to respond earlier than other biochemical and clinical parameters. An increase in Lyso-Gb1 may signal early compromised clinical efficacy of the treatment. Data on biochemical and clinical outcomes in splenectomized or obese patients treated with eliglustat are limited, and the role of specific genotypes requires further clarification. The variability in responses to eliglustat highlights the complexity of GD and underscores the need for personalized approaches to treatment and monitoring.</p>","PeriodicalId":18496,"journal":{"name":"Metabolites","volume":"15 7","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unravelling the Dynamic Physiological and Metabolome Responses of Wheat (<i>Triticum aestivum</i> L.) to Saline-Alkaline Stress at the Seedling Stage.","authors":"Wei Ren, Li Chen","doi":"10.3390/metabo15070430","DOIUrl":"https://doi.org/10.3390/metabo15070430","url":null,"abstract":"<p><strong>Background/objectives: </strong>Understanding metabolome adjustment under saline-alkaline conditions is crucial for enhancing crop tolerance capacity and ensuring food security. Although soil salinization impairs wheat seedlings' growth, metabolome plasticity under saline-alkaline stress remains poorly understood. Here, we delved into dynamic physiological and metabolome shifts in wheat seedlings grown on SAS (saline-alkaline soil) on the 7th and 15th days post-germination (DPG).</p><p><strong>Methods: </strong>A self-developed and cultivated high-generation salt-alkali wheat variety (011) was grown on SAS and control soil, followed by comparative physiological, biochemical, and metabolomics analyses of seedlings.</p><p><strong>Results: </strong>The seedlings' saline-alkaline stress responses were developmentally regulated with reduced growth, increasing accumulation of proline and soluble sugars, and differential antioxidant response. LC-MS-based global metabolomics analysis revealed significant metabolite profile differences, with 367 and 485 differential metabolites identified on the 7th and 15th DPG, respectively, between control and treatment. Upregulation of saccharides, flavonoids, organic acids (citrate cycle-related), phenolic acids, amino acids and derivatives, phytohormones, and sphingolipid metabolism was essential for seedlings' growth on SAS. The key induced metabolites in seedlings grown on SAS include saccharic acid, trehalose, sucrose, glucose, L-citramalic acid, phellodendroside, scutellarin, anthranilate-1-<i>O</i>-sophoroside, lavandulifolioside, N-methyl-L-glutamate, etc. Up-regulated phytohormones include abscisic acid (3.8-fold, 7th DPG and 3.18-fold, 15th DPG), jasmonic acid (1.93-fold, 15th DPG), and jasmonoyl isoleucine (2.03-fold, 15th DPG).</p><p><strong>Conclusions: </strong>Our findings highlight the importance of ABA and jasmonic acid in regulating salt-alkali tolerance in wheat seedlings. Moreover, this study depicts key pathways involved in salt-alkali tolerance in wheat seedlings and unveils key DMs, offering resources for boosting wheat production on SAS.</p>","PeriodicalId":18496,"journal":{"name":"Metabolites","volume":"15 7","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impacts of Phenolic Compounds and Their Benefits on Human Health: Germination.","authors":"Jonathan Hernández-Miranda, Karen Argelia Reyes-Portillo, Abigail García-Castro, Esther Ramírez-Moreno, Alma Delia Román-Gutiérrez","doi":"10.3390/metabo15070425","DOIUrl":"https://doi.org/10.3390/metabo15070425","url":null,"abstract":"<p><p>Due to their outstanding nutritional profile, the consumption of seeds has been an essential source of nutrients. These foods have a unique composition, containing carbohydrates, proteins, lipids, fiber, vitamins, minerals, and bioactive compounds in the same food matrix. Furthermore, the nutritional profile can naturally be maximized and optimized through the germination process through two key methods: degradation of macromolecules and biosynthesis of metabolites, which favors an increase in the concentration of bioactive compounds, such as phenolic compounds. The extraction of these compounds has been studied in various plant fractions, including roots, stems, leaves, fruits, and seeds, using different extraction techniques. Among these, ultrasound-assisted extraction has gained popularity due to its efficiency and yield, considering specific parameters to maximize the bioactive yield. These advances have allowed us to evaluate the potential of the extracted compounds as preventive agents in cardiovascular and degenerative diseases, showing promising results in preventive medicine. Recent studies have shown that cereals possess anti-lipid, anti-hypercholesterolemic, anti-diabetic, anti-inflammatory, and antibiotic properties, mainly due to their antioxidant capacity. This work describes the effects of germination on the nutritional profile, presents benefits to human health through seed consumption, and refers to a collection of strategies to improve the extraction process.</p>","PeriodicalId":18496,"journal":{"name":"Metabolites","volume":"15 7","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcriptome Profiling Reveals Genetic Basis of Muscle Development and Meat Quality Traits in Chinese Congjiang Xiang and Landrace Pigs.","authors":"Jiada Yang, Qiaowen Tang, Chunying Sun, Qiuyue Li, Xiaoyu Li, Lu Hou, Yi Yang, Kang Yang","doi":"10.3390/metabo15070426","DOIUrl":"https://doi.org/10.3390/metabo15070426","url":null,"abstract":"<p><p>(1) Objectives: Understanding the genetic basis of muscle development and meat quality traits in divergent pig breeds is crucial for advancing precision breeding strategies. (2) Methods: This study investigated transcriptome differences in the <i>longissimus dorsi</i> muscle between Chinese Congjiang Xiang (CX) and Landrace (LAN) pigs. RNA sequencing was performed on muscle tissues from ten individuals of each breed, generating 874.5 million raw reads with an average mapping rate of 89.3% to the pig reference genome. (3) Results: Transcriptional profiling revealed distinct expression patterns with 785 genes exclusively expressed in CX pigs and 457 genes unique to LAN pigs, while 7099 co-expressed genes were shared by both breeds. Differential expression analysis identified 2459 significantly different genes (|log2FC| ≥ 1, adjusted <i>p</i>-value < 0.05), with 1745 up-regulated and 714 down-regulated in CX pigs. Among the most significantly up-regulated genes in CX pigs were flavor-associated genes (<i>ELOVL5/6</i>, <i>FASN</i>, <i>DGAT2</i>, <i>ALDH1A3</i>, <i>PPAR-γ</i>) with log2FC values ranging from 1.21 to 3.88. GO and KEGG pathway analyses revealed that up-regulated genes in CX pigs were significantly enriched in immune response pathways (adjusted <i>p</i>-value < 0.01), while down-regulated genes were primarily associated with myosin complex formation and <i>PPAR</i> signaling pathway. PPI network analysis identified <i>PPAR-γ</i> as a central hub gene with 16 direct interactions to other flavor-related genes. (4) Conclusions: These findings demonstrate that the superior meat flavor characteristics of indigenous Chinese pigs are driven by enhanced expression of lipid metabolism genes and distinctive immune-related pathways, providing specific molecular targets for breeding programs aimed at improving meat quality while maintaining production efficiency in commercial breeds.</p>","PeriodicalId":18496,"journal":{"name":"Metabolites","volume":"15 7","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Uric Acid, Colchicine and Chronic Inflammatory Diseases: A Cardiovascular Perspective.","authors":"Alessia Alunno, Francesco Carubbi, Claudio Ferri","doi":"10.3390/metabo15070424","DOIUrl":"https://doi.org/10.3390/metabo15070424","url":null,"abstract":"<p><p>Based on the notion that inflammation plays a pivotal role in the development and progression of cardiovascular diseases (CV) and that hyperuricaemia is an independent CV risk factor, chronic inflammatory diseases such as gout and rheumatoid arthritis are an interesting case study. Both conditions are burdened by an excess CV risk; they are themselves an independent CV risk factor, and in the case of gout, hyperuricaemia is a hallmark of the disease. Colchicine, a drug historically used for the management of gout, has recently been repurposed for secondary CV prevention in individuals at high CV risk. The purpose of this review article is to discuss evidence on CV diseases and CV prevention in rheumatoid arthritis, gout, and other chronic inflammatory/systemic autoimmune diseases with a focus on inflammation and hyperuricaemia.</p>","PeriodicalId":18496,"journal":{"name":"Metabolites","volume":"15 7","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Impact of Physical Activity on Metabolic Health and Cognitive Function in Postmenopausal Women: A Cross-Sectional Study.","authors":"Kinga Mruczyk, Rafał W Wójciak, Marta Molska, Ewa Śliwicka, Tomasz Podgórski, Aleksandra Skoczek-Rubińska, Anna Borowiecka, Angelika Cisek-Woźniak","doi":"10.3390/metabo15070420","DOIUrl":"https://doi.org/10.3390/metabo15070420","url":null,"abstract":"<p><p><b>Background</b>: This study aimed to evaluate the impact of physical activity levels on selected biochemical markers (glucose, insulin, cholesterol, triglycerides, interleukin-6 [IL-6]), brain-derived neurotrophic factor (BDNF), cognitive functions, and additional macronutrient intake in postmenopausal women. <b>Method</b>: A total of 72 generally healthy women aged 55-73 from western Poland participated in the study. Physical activity levels were assessed using the International Physical Activity Questionnaire (IPAQ), resulting in two distinct groups: 56 women in the lower activity level group and 16 in the higher activity level group. We calculated body mass index (BMI), measured body composition and blood pressure, and conducted cognitive assessments, including the Mini-Mental State Examination (MMSE), motor and psychomotor skills tests, the Clock Drawing Test, and the Geriatric Depression Scale (GDS). Nutritional intake was evaluated using a detailed 3-day food record to analyze macronutrient consumption and total caloric intake. <b>Results</b>: A statistically significant difference in total blood cholesterol levels (<i>p</i> = 0.0277) was observed between the two groups, with the higher physical activity group showing elevated cholesterol levels. Although no other biochemical markers showed statistically significant differences, variations in BDNF, glucose, triglycerides, IL-6, and insulin levels were noted between groups. Moreover, correlations between these markers and cognitive performance, like motor and psychomotor speeds, varied depending on physical activity level. The analyzed dietary pattern of the studied group shows slight deviations from current nutritional recommendations. <b>Conclusions</b>: The findings suggest that physical activity level may influence certain biochemical markers and cognitive functions in postmenopausal women. While these results highlight the potential benefits of physical activity, further research is needed to clarify underlying mechanisms and to validate physical activity as an effective strategy for improving postmenopausal health.</p>","PeriodicalId":18496,"journal":{"name":"Metabolites","volume":"15 7","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Follicular Biochemical Characterization and Fatty Acid Metabolic Signatures of Follicles During Ovulation Process Reveal the Potential Mechanism for Ovarian Cyst Formation in Sows.","authors":"Jingyuan Liang, Yanfei Deng, Song Fu, Juanru Cheng, Ruimen Zhang, Deshun Shi, Yu Pan, Sufang Yang","doi":"10.3390/metabo15070421","DOIUrl":"https://doi.org/10.3390/metabo15070421","url":null,"abstract":"<p><p><b>Background/Objectives</b>: As a well-known source of energy from feed, the significance of fatty acids in regulating the reproductive potential of livestock has received attention in recent years, especially follicular development. Moreover, successful ovulation is a process that is crucial for reproduction and fertility in domestic animals. Therefore, it is important to reveal the signatures of fatty acids in follicular fluid during mammalian ovulation, and this provides a possible method to prevent the occurrence of ovarian cysts in domestic animals. <b>Methods</b>: Pre-ovulatory follicles (<i>n</i> = 6) and peri-ovulatory follicles (<i>n</i> = 6) during normal ovulation, as well as cystic follicles (<i>n</i> = 6) in ovulation-deficient ovarian cyst were isolated and characterized, while follicular fluid was collected for targeted fatty acid metabolomics detection and analysis. <b>Results</b>: We have illustrated the anatomical and biochemical characterization of pre-ovulatory, peri-ovulatory, and cystic follicles. Subsequently, we identified changes in 51 fatty acids profiles in the follicular fluid. The highest proportion of fatty acids in the follicular fluid at three different ovulation stages is polyunsaturated fatty acids, among which the abnormality of the linoleic acid metabolism pathway was involved in ovulation defects in cystic follicles. Remarkably, we found that linoleic acid was significantly increased while arachidonic acid was significantly decreased in cystic follicles. <b>Conclusions</b>: Polyunsaturated fatty acids play a significant role in the follicular ovulation stage of sows. Among them, linoleic acid and arachidonic acid are closely related to the ovulation defects of cystic follicles, which suggests that identifying changes in important metabolic signatures may give us a better understanding of the pathogenesis of ovarian cyst.</p>","PeriodicalId":18496,"journal":{"name":"Metabolites","volume":"15 7","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}