Editorial

4 pages, 187 KiB

Open AccessEditorial

Special Issue on “The Application of Metabolomics in Clinical Practice: Challenges and Opportunities”

by Michele Mussap

Metabolites 2022, 12(4), 296; https://doi.org/10.3390/metabo12040296 - 28 Mar 2022

Cited by 2 | Viewed by 1499

This Special Issue aimed to collect studies based on clinical applications of metabolomics in human disease [...] Full article

(This article belongs to the Special Issue The Application of Metabolomics in Clinical Practice: Challenges and Opportunities)

Research

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15 pages, 1023 KiB

Open AccessArticle

Sex-Specific Catabolic Metabolism Alterations in the Critically Ill following High Dose Vitamin D

by Sowmya Chary, Karin Amrein, Sherif H. Mahmoud, Jessica A. Lasky-Su and Kenneth B. Christopher

Metabolites 2022, 12(3), 207; https://doi.org/10.3390/metabo12030207 - 25 Feb 2022

Cited by 8 | Viewed by 2540

Abstract

Pharmacological interventions are essential for the treatment and management of critical illness. Although women comprise a large proportion of the critically ill, sex-specific pharmacological properties are poorly described in critical care. The sex-specific effects of vitamin D₃ treatment in the critically ill [...] Read more.

Pharmacological interventions are essential for the treatment and management of critical illness. Although women comprise a large proportion of the critically ill, sex-specific pharmacological properties are poorly described in critical care. The sex-specific effects of vitamin D₃ treatment in the critically ill are not known. Therefore, we performed a metabolomics cohort study with 1215 plasma samples from 428 patients from the VITdAL-ICU trial to study sex-specific differences in the metabolic response to critical illness following high-dose oral vitamin D₃ intervention. In women, despite the dose of vitamin D₃ being higher, pharmacokinetics demonstrated a lower extent of vitamin D₃ absorption compared to men. Metabolic response to high-dose oral vitamin D₃ is sex-specific. Sex-stratified individual metabolite associations with elevations in 25(OH)D following intervention showed female-specific positive associations in long-chain acylcarnitines and male-specific positive associations in free fatty acids. In subjects who responded to vitamin D₃ intervention, significant negative associations were observed in short-chain acylcarnitines and branched chain amino acid metabolites in women as compared to men. Acylcarnitines and branched chain amino acids are reflective of fatty acid B oxidation, and bioenergesis may represent notable metabolic signatures of the sex-specific response to vitamin D. Demonstrating sex-specific pharmacometabolomics differences following intervention is an important movement towards the understanding of personalized medicine. Full article

(This article belongs to the Special Issue The Application of Metabolomics in Clinical Practice: Challenges and Opportunities)

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12 pages, 3233 KiB

Open AccessFeature PaperArticle

A Comparison of Mother’s Milk and the Neonatal Urine Metabolome: A Unique Fingerprinting for Different Nutritional Phenotypes

by Angelica Dessì, Alessandra Marzullo, Sara Corbu, Alice Bosco, Flaminia Cesare Marincola, Maria Grazia Pattumelli, Michele Mussap, Roberta Pintus, Vassilios Fanos and Rocco Agostino

Metabolites 2022, 12(2), 113; https://doi.org/10.3390/metabo12020113 - 25 Jan 2022

Cited by 2 | Viewed by 2298

Abstract

The ability of metabolomics to provide a snapshot of an individual’s metabolic state makes it a very useful technique in neonatology for investigating the complex relationship between nutrition and the state of health of the newborn. Through an ¹H-NMR metabolomics analysis, we [...] Read more.

The ability of metabolomics to provide a snapshot of an individual’s metabolic state makes it a very useful technique in neonatology for investigating the complex relationship between nutrition and the state of health of the newborn. Through an ¹H-NMR metabolomics analysis, we aimed to investigate the metabolic profile of newborns by analyzing both urine and milk samples in relation to the birth weight of neonates classified as AGA (adequate for the gestational age, n = 51), IUGR (intrauterine growth restriction, n = 14), and LGA (large for gestational age, n = 15). Samples were collected at 7 ± 2 days after delivery. Of these infants, 42 were exclusively breastfed, while 38 received mixed feeding with a variable amount of commercial infant formula (less than 40%) in addition to breast milk. We observed a urinary spectral pattern for oligosaccharides very close to that of the corresponding mother’s milk in the case of exclusively breastfed infants, thus mirroring the maternal phenotype. The absence of this good match between the infant urine and human milk spectra in the case of mixed-fed infants could be reasonably ascribed to the use of a variable amount of commercial infant formulas (under 40%) added to breast milk. Furthermore, our findings did not evidence any significant differences in the spectral profiles in terms of the neonatal customize centile, i.e., AGA (adequate for gestational age), LGA (large for gestational age), or IGUR (intrauterine growth restriction). It is reasonable to assume that maternal human milk oligosaccharide (HMO) production is not or is only minimally influenced by the fetal growth conditions for unknown reasons. This hypothesis may be supported by our metabolomics-based results, confirming once again the importance of this approach in the neonatal field. Full article

(This article belongs to the Special Issue The Application of Metabolomics in Clinical Practice: Challenges and Opportunities)

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16 pages, 2951 KiB

Open AccessArticle

Alterations of the Intestinal Permeability are Reflected by Changes in the Urine Metabolome of Young Autistic Children: Preliminary Results

by Cristina Piras, Michele Mussap, Antonio Noto, Andrea De Giacomo, Fernanda Cristofori, Martina Spada, Vassilios Fanos, Luigi Atzori and Ruggiero Francavilla

Metabolites 2022, 12(2), 104; https://doi.org/10.3390/metabo12020104 - 23 Jan 2022

Cited by 10 | Viewed by 2928

Abstract

Several metabolomics-based studies have provided evidence that autistic subjects might share metabolic abnormalities with gut microbiota dysbiosis and alterations in gut mucosal permeability. Our aims were to explore the most relevant metabolic perturbations in a group of autistic children, compared with their healthy [...] Read more.

Several metabolomics-based studies have provided evidence that autistic subjects might share metabolic abnormalities with gut microbiota dysbiosis and alterations in gut mucosal permeability. Our aims were to explore the most relevant metabolic perturbations in a group of autistic children, compared with their healthy siblings, and to investigate whether the increased intestinal permeability may be mirrored by specific metabolic perturbations. We enrolled 13 autistic children and 14 unaffected siblings aged 2–12 years; the evaluation of the intestinal permeability was estimated by the lactulose:mannitol test. The urine metabolome was investigated by proton nuclear magnetic resonance (1H-NMR) spectroscopy. The lactulose:mannitol test unveiled two autistic children with altered intestinal permeability. Nine metabolites significantly discriminated the urine metabolome of autistic children from that of their unaffected siblings; however, in the autistic children with increased permeability, four additional metabolites—namely, fucose, phenylacetylglycine, nicotinurate, and 1-methyl-nicotinamide, strongly discriminated their urine metabolome from that of the remaining autistic children. Our preliminary data suggest the presence of a specific urine metabolic profile associated with the increase in intestinal permeability. Full article

(This article belongs to the Special Issue The Application of Metabolomics in Clinical Practice: Challenges and Opportunities)

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17 pages, 2689 KiB

Open AccessArticle

Methotrexate Disposition, Anti-Folate Activity, and Metabolomic Profiling to Identify Molecular Markers of Disease Activity and Drug Response in the Collagen-Induced Arthritis Mouse Model

by Yezan M. Salamoun, Kishore Polireddy, Yu Kyoung Cho, Matthew R. Medcalf and Ryan S. Funk

Metabolites 2022, 12(1), 24; https://doi.org/10.3390/metabo12010024 - 28 Dec 2021

Cited by 6 | Viewed by 2757

Abstract

Methotrexate (MTX) is widely used in the treatment of autoimmune arthritis but is limited by its unpredictable and variable response profile. Currently, no biomarkers exist to predict or monitor early therapeutic responses to MTX. Using a collagen-induced arthritis (CIA) mouse model, this study [...] Read more.

Methotrexate (MTX) is widely used in the treatment of autoimmune arthritis but is limited by its unpredictable and variable response profile. Currently, no biomarkers exist to predict or monitor early therapeutic responses to MTX. Using a collagen-induced arthritis (CIA) mouse model, this study aimed to identify biochemical pathways and biomarkers associated with MTX efficacy in autoimmune arthritis. Following arthritis disease induction, DBA/1J mice were treated with subcutaneous MTX (20 mg/kg/week) and disease activity was assessed based on disease activity scores (DAS) and paw volume (PV) measurements. Red blood cell (RBC) and plasma samples were collected at the end of the study and were assessed for folate and MTX content. Plasma samples were analyzed by semitargeted global metabolomic profiling and analyzed by univariate and multivariate analysis. Treatment with MTX was associated with significant reductions in disease activity based on both DAS (p = 0.0006) and PV (p = 0.0006). MTX therapy resulted in significant reductions in 5-methyltetrahydrofolate (5mTHF) levels in plasma (p = 0.02) and RBCs (p = 0.001). Reductions in both RBC and plasma 5mTHF were associated with lower DAS (p = 0.0007, p = 0.01, respectively) and PV (p = 0.001, p = 0.005, respectively). Increases in RBC MTX were associated with lower DAS (p = 0.003) but not PV (p = 0.23). Metabolomic analysis identified N-methylisoleucine (NMI) and quinolone as metabolites significantly altered in disease mice, which were corrected towards healthy control levels in mice treated with MTX. Reductions in plasma NMI were associated with lower DAS (p = 0.0002) and PV (p = 9.5 × 10⁻⁶). Increases in plasma quinolone were associated with lower DAS (p = 0.02) and PV (p = 0.01). Receiver-operating characteristic curve analysis identified plasma NMI (AUC = 1.00, p = 2.4 × 10⁻⁸), RBC 5mTHF (AUC = 0.99, p = 2.4 × 10⁻⁵), and plasma quinolone (AUC = 0.89, p = 0.01) as top discriminating metabolites of MTX treatment. Our data support a relationship between MTX efficacy and its effect on circulating folates and identified 5mTHF, NMI, and quinolone as potential therapeutic biomarkers of disease activity and MTX response in the CIA mouse model of autoimmune arthritis. Full article

(This article belongs to the Special Issue The Application of Metabolomics in Clinical Practice: Challenges and Opportunities)

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20 pages, 4453 KiB

Open AccessArticle

Plasma Metabolome Normalization in Rheumatoid Arthritis Following Initiation of Methotrexate and the Identification of Metabolic Biomarkers of Efficacy

by Matthew R. Medcalf, Pooja Bhadbhade, Ted R. Mikuls, James R. O’Dell, Rebekah L. Gundry and Ryan S. Funk

Metabolites 2021, 11(12), 824; https://doi.org/10.3390/metabo11120824 - 30 Nov 2021

Cited by 13 | Viewed by 2927

Abstract

Methotrexate (MTX) efficacy in the treatment of rheumatoid arthritis (RA) is variable and unpredictable, resulting in a need to identify biomarkers to guide drug therapy. This study evaluates changes in the plasma metabolome associated with response to MTX in RA with the goal [...] Read more.

Methotrexate (MTX) efficacy in the treatment of rheumatoid arthritis (RA) is variable and unpredictable, resulting in a need to identify biomarkers to guide drug therapy. This study evaluates changes in the plasma metabolome associated with response to MTX in RA with the goal of understanding the metabolic basis for MTX efficacy towards the identification of potential metabolic biomarkers of MTX response. Plasma samples were collected from healthy control subjects (n = 20), and RA patients initiating MTX therapy (n = 20, 15 mg/week) before and after 16 weeks of treatment. The samples were analyzed by a semi-targeted metabolomic analysis, and then analyzed by univariate and multivariate methods, as well as an enrichment analysis. An MTX response was defined as a clinically significant reduction in the disease activity score in 28 joints (DAS-28) of greater than 1.2; achievement of clinical remission, defined as a DAS-28 < 2.6, was also utilized as an additional measure of response. In this study, RA is associated with an altered plasma metabolome that is normalized following initiation of MTX therapy. Metabolite classes found to be altered in RA and corrected by MTX therapy were diverse and included triglycerides (p = 1.1 × 10⁻¹⁶), fatty acids (p = 8.0 × 10⁻¹²), and ceramides (p = 9.8 × 10⁻¹³). Stratification based on responses to MTX identified various metabolites differentially impacted in responders and non-responders including glucosylceramides (GlcCer), phosphatidylcholines (PC), sphingomyelins (SM), phosphatidylethanolamines (PE), choline, inosine, hypoxanthine, guanosine, nicotinamide, and itaconic acid (p < 0.05). In conclusion, RA is associated with significant alterations to the plasma metabolome displaying at least partial normalization following 16 weeks of MTX therapy. Changes in multiple metabolites were found to be associated with MTX efficacy, including metabolites involved in fatty acid/lipid, nucleotide, and energy metabolism. Full article

(This article belongs to the Special Issue The Application of Metabolomics in Clinical Practice: Challenges and Opportunities)

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18 pages, 2488 KiB

Open AccessArticle

Application of Sebum Lipidomics to Biomarkers Discovery in Neurodegenerative Diseases

by Stefania Briganti, Mauro Truglio, Antonella Angiolillo, Salvatore Lombardo, Deborah Leccese, Emanuela Camera, Mauro Picardo and Alfonso Di Costanzo

Metabolites 2021, 11(12), 819; https://doi.org/10.3390/metabo11120819 - 29 Nov 2021

Cited by 13 | Viewed by 2914

Abstract

Lipidomics is strategic in the discovery of biomarkers of neurodegenerative diseases (NDDs). The skin surface lipidome bears the potential to provide biomarker candidates in the detection of pathological processes occurring in distal organs. We investigated the sebum composition to search diagnostic and, possibly, [...] Read more.

Lipidomics is strategic in the discovery of biomarkers of neurodegenerative diseases (NDDs). The skin surface lipidome bears the potential to provide biomarker candidates in the detection of pathological processes occurring in distal organs. We investigated the sebum composition to search diagnostic and, possibly, prognostic, biomarkers of Alzheimer’s disease (AD) and Parkinson’s disease (PD). The observational study included 64 subjects: 20 characterized as “probable AD with documented decline”, 20 as “clinically established PD”, and 24 healthy subjects (HS) of comparable age. The analysis of sebum by GCMS and TLC retrieved the amounts (µg) of 41 free fatty acids (FFAs), 7 fatty alcohols (FOHs), vitamin E, cholesterol, squalene, and total triglycerides (TGs) and wax esters (WEs). Distributions of sebum lipids in NDDs and healthy conditions were investigated with multivariate ANOVA-simultaneous component analysis (ASCA). The deranged sebum composition associated with the PD group showed incretion of most composing lipids compared to HS, whereas only two lipid species (vitamin E and FOH14:0) were discriminant of AD samples and presented lower levels than HS sebum. Thus, sebum lipid biosynthetic pathways are differently affected in PD and AD. The characteristic sebum bio-signatures detected support the value of sebum lipidomics in the biomarkers search in NDDs. Full article

(This article belongs to the Special Issue The Application of Metabolomics in Clinical Practice: Challenges and Opportunities)

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18 pages, 4354 KiB

Open AccessArticle

A Metabolomics Investigation of the Metabolic Changes of Raji B Lymphoma Cells Undergoing Apoptosis Induced by Zinc Ions

by Naeun Yoon, Hyunbeom Lee, Geonhee Lee, Eun Hye Kim, Seong Hwan Kim, Jeong-O Lee, Yunseon Song, Jinyoung Park, So-Dam Kim, Yeojin Kim and Byung Hwa Jung

Metabolites 2021, 11(10), 689; https://doi.org/10.3390/metabo11100689 - 07 Oct 2021

Cited by 4 | Viewed by 2749

Abstract

Zinc plays a pivotal role in the function of cells and can induce apoptosis in various cancer cells, including Raji B lymphoma. However, the metabolic mechanism of Zn-induced apoptosis in Raji cells has not been explored. In this study, we performed global metabolic [...] Read more.

Zinc plays a pivotal role in the function of cells and can induce apoptosis in various cancer cells, including Raji B lymphoma. However, the metabolic mechanism of Zn-induced apoptosis in Raji cells has not been explored. In this study, we performed global metabolic profiling using UPLC−Orbitrap−MS to assess the apoptosis of Raji cells induced by Zn ions released from ZnO nanorods. Multivariate analysis and database searches identified altered metabolites. Furthermore, the differences in the phosphorylation of 1380 proteins were also evaluated by Full Moon kinase array to discover the protein associated Zn−induced apoptosis. From the results, a prominent increase in glycerophosphocholine and fatty acids was observed after Zn ion treatment, but only arachidonic acid was shown to induce apoptosis. The kinase array revealed that the phosphorylation of p53, GTPase activation protein, CaMK2a, PPAR−γ, and PLA−2 was changed. From the pathway analysis, metabolic changes showed earlier onset than protein signaling, which were related to choline metabolism. LC−MS analysis was used to quantify the intracellular choline concentration, which decreased after Zn treatment, which may be related to the choline consumption required to produce choline-containing metabolites. Overall, we found that choline metabolism plays an important role in Zn-induced Raji cell apoptosis. Full article

(This article belongs to the Special Issue The Application of Metabolomics in Clinical Practice: Challenges and Opportunities)

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15 pages, 2122 KiB

Open AccessArticle

Analysis of Metabolic Markers in Patients with Chronic Heart Failure before and after LVAD Implantation

by Marion S. Hilse, Tom Kretzschmar, Rudin Pistulli, Marcus Franz, Tarek Bekfani, Daniela Haase, Sophie Neugebauer, Michael Kiehntopf, Jan F. Gummert, Hendrik Milting and P. Christian Schulze

Metabolites 2021, 11(9), 615; https://doi.org/10.3390/metabo11090615 - 09 Sep 2021

Cited by 1 | Viewed by 2302

Abstract

Chronic heart failure (HF) is a clinical syndrome characterized by functional impairments of the myocardium. Metabolic and clinical changes develop with disease progression. In an advanced state, left ventricular assist devices (LVADs) are implanted for mechanical unloading. Our study aimed to assess the [...] Read more.

Chronic heart failure (HF) is a clinical syndrome characterized by functional impairments of the myocardium. Metabolic and clinical changes develop with disease progression. In an advanced state, left ventricular assist devices (LVADs) are implanted for mechanical unloading. Our study aimed to assess the effects of LVAD implantation on the metabolic phenotypes and their potential to reverse the latter in patients with advanced HF. Plasma metabolites were analyzed by LC–MS/MS in 20 patients with ischemic cardiomyopathy (ICM), 20 patients with dilative cardiomyopathy (DCM), and 20 healthy controls. Samples were collected in HF patients before, 30 days after, and >100 days after LVAD implantation. Out of 188 measured metabolites, 63 were altered in HF. Only three metabolites returned to pre-LVAD concentrations 100 days after LVAD implantation. Pre-LVAD differences between DCM and ICM were mainly observed for amino acids and biogenic amines. This study shows a reversal of metabolite abnormalities in HF as a result of LVAD implantation. The etiology of the underlying disease plays an essential role in defining which specific metabolic parameter is altered in HF and reversed by LVAD implantation. Our findings provide a detailed insight into the disease pattern of ICM and DCM and the potential for reversibility of metabolic abnormalities in HF. Full article

(This article belongs to the Special Issue The Application of Metabolomics in Clinical Practice: Challenges and Opportunities)

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17 pages, 2840 KiB

Open AccessArticle

Serum Metabolite Profile Associated with Sex-Dependent Visceral Adiposity Index and Low Bone Mineral Density in a Mexican Population

by Berenice Palacios-González, Guadalupe León-Reyes, Berenice Rivera-Paredez, Isabel Ibarra-González, Marcela Vela-Amieva, Yvonne N. Flores, Samuel Canizales-Quinteros, Jorge Salmerón and Rafael Velázquez-Cruz

Metabolites 2021, 11(9), 604; https://doi.org/10.3390/metabo11090604 - 06 Sep 2021

Cited by 9 | Viewed by 6610

Abstract

Recent evidence shows that obesity correlates negatively with bone mass. However, traditional anthropometric measures such as body mass index could not discriminate visceral adipose tissue from subcutaneous adipose tissue. The visceral adiposity index (VAI) is a reliable sex-specified indicator of visceral adipose distribution [...] Read more.

Recent evidence shows that obesity correlates negatively with bone mass. However, traditional anthropometric measures such as body mass index could not discriminate visceral adipose tissue from subcutaneous adipose tissue. The visceral adiposity index (VAI) is a reliable sex-specified indicator of visceral adipose distribution and function. Thus, we aimed to identify metabolomic profiles associated with VAI and low bone mineral density (BMD). A total of 602 individuals from the Health Workers Cohort Study were included. Forty serum metabolites were measured using the targeted metabolomics approach, and multivariate regression models were used to test associations of metabolomic profiles with anthropometric, clinical, and biochemical parameters. The analysis showed a serum amino acid signature composed of glycine, leucine, arginine, valine, and acylcarnitines associated with high VAI and low BMD. In addition, we found a sex-dependent VAI in pathways related to primary bile acid biosynthesis, branched-chain amino acids, and the biosynthesis of pantothenate and coenzyme A (CoA). In conclusion, a metabolic profile differs by VAI and BMD status, and these changes are gender-dependent. Full article

(This article belongs to the Special Issue The Application of Metabolomics in Clinical Practice: Challenges and Opportunities)

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Review

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25 pages, 1716 KiB

Open AccessReview

Metabolomics in Autoimmune Diseases: Focus on Rheumatoid Arthritis, Systemic Lupus Erythematous, and Multiple Sclerosis

by Naeun Yoon, Ah-Kyung Jang, Yerim Seo and Byung Hwa Jung

Metabolites 2021, 11(12), 812; https://doi.org/10.3390/metabo11120812 - 29 Nov 2021

Cited by 11 | Viewed by 3971

Abstract

The metabolomics approach represents the last downstream phenotype and is widely used in clinical studies and drug discovery. In this paper, we outline recent advances in the metabolomics research of autoimmune diseases (ADs) such as rheumatoid arthritis (RA), multiple sclerosis (MuS), and systemic [...] Read more.

The metabolomics approach represents the last downstream phenotype and is widely used in clinical studies and drug discovery. In this paper, we outline recent advances in the metabolomics research of autoimmune diseases (ADs) such as rheumatoid arthritis (RA), multiple sclerosis (MuS), and systemic lupus erythematosus (SLE). The newly discovered biomarkers and the metabolic mechanism studies for these ADs are described here. In addition, studies elucidating the metabolic mechanisms underlying these ADs are presented. Metabolomics has the potential to contribute to pharmacotherapy personalization; thus, we summarize the biomarker studies performed to predict the personalization of medicine and drug response. Full article

(This article belongs to the Special Issue The Application of Metabolomics in Clinical Practice: Challenges and Opportunities)

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17 pages, 1259 KiB

Open AccessReview

Metabolomic Laboratory-Developed Tests: Current Status and Perspectives

by Steven Lichtenberg, Oxana P. Trifonova, Dmitry L. Maslov, Elena E. Balashova and Petr G. Lokhov

Metabolites 2021, 11(7), 423; https://doi.org/10.3390/metabo11070423 - 26 Jun 2021

Cited by 15 | Viewed by 4039

Abstract

Laboratory-developed tests (LDTs) are a subset of in vitro diagnostic devices, which the US Food and Drug Administration defines as “tests that are manufactured by and used within a single laboratory”. The review describes the emergence and history of LDTs. The current state [...] Read more.

Laboratory-developed tests (LDTs) are a subset of in vitro diagnostic devices, which the US Food and Drug Administration defines as “tests that are manufactured by and used within a single laboratory”. The review describes the emergence and history of LDTs. The current state and development prospects of LDTs based on metabolomics are analyzed. By comparing LDTs with the scientific metabolomics study of human bio samples, the characteristic features of metabolomic LDT are shown, revealing its essence, strengths, and limitations. The possibilities for further developments and scaling of metabolomic LDTs and their potential significance for healthcare are discussed. The legal aspects of LDT regulation in the United States, European Union, and Singapore, demonstrating different approaches to this issue, are also provided. Based on the data presented in the review, recommendations were made on the feasibility and ways of further introducing metabolomic LDTs into practice. Full article

(This article belongs to the Special Issue The Application of Metabolomics in Clinical Practice: Challenges and Opportunities)

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15 pages, 714 KiB

Open AccessReview

Metabolomics: A Scoping Review of Its Role as a Tool for Disease Biomarker Discovery in Selected Non-Communicable Diseases

by Adewale Victor Aderemi, Ademola Olabode Ayeleso, Oluboade Oluokun Oyedapo and Emmanuel Mukwevho

Metabolites 2021, 11(7), 418; https://doi.org/10.3390/metabo11070418 - 25 Jun 2021

Cited by 43 | Viewed by 4904

Abstract

Metabolomics is a branch of ‘omics’ sciences that utilises a couple of analytical tools for the identification of small molecules (metabolites) in a given sample. The overarching goal of metabolomics is to assess these metabolites quantitatively and qualitatively for their diagnostic, therapeutic, and [...] Read more.

Metabolomics is a branch of ‘omics’ sciences that utilises a couple of analytical tools for the identification of small molecules (metabolites) in a given sample. The overarching goal of metabolomics is to assess these metabolites quantitatively and qualitatively for their diagnostic, therapeutic, and prognostic potentials. Its use in various aspects of life has been documented. We have also published, howbeit in animal models, a few papers where metabolomic approaches were used in the study of metabolic disorders, such as metabolic syndrome, diabetes, and obesity. As the goal of every research is to benefit humankind, the purpose of this review is to provide insights into the applicability of metabolomics in medicine vis-à-vis its role in biomarker discovery for disease diagnosis and management. Here, important biomarkers with proven diagnostic and therapeutic relevance in the management of disease conditions, such as Alzheimer’s disease, dementia, Parkinson’s disease, inborn errors of metabolism (IEM), diabetic retinopathy, and cardiovascular disease, are noted. The paper also discusses a few reasons why most metabolomics-based laboratory discoveries are not readily translated to the clinic and how these could be addressed going forward. Full article

(This article belongs to the Special Issue The Application of Metabolomics in Clinical Practice: Challenges and Opportunities)

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