Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series DOI Creative Commons
Nishitha R. Pillai, Ning Liu, Xiyuan Li

и другие.

Communications Medicine, Год журнала: 2025, Номер 5(1)

Опубликована: Янв. 9, 2025

Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or of 17 known cellular sulfatases. The activation all these sulfatases dependent on presence formylglycine-generating enzyme, which encoded by SUMF1 gene. Disease-causing homozygous compound heterozygous variants in result MSD. Other than symptomatic treatment, no curative therapy exists as yet for Eight out are primarily localized lysosome. Two siblings with attenuated MSD underwent hematopoietic cell transplantation (HCT), evaluating possibility lysosomal enzymatic cross-correction from donor cells. There evidence correction currently available biomarkers within 3 months post-HCT. Untargeted metabolomics also shows continued multiple biochemical abnormalities post-HCT period. Furthermore, this article presents neuropsychological outcomes children well results untargeted analysis condition. These data suggest benefits post-transplant along slowing disease progression. Long-term follow-up necessary fully evaluate therapeutic benefit HCT Pillai et al. evaluates utility bone marrow deficiency, a inborn error metabolism other therapies management. and progression halt during post follow up genetic body unable produce certain enzymes type protein. affects systems, brain. current treatments catered toward easing symptoms cannot cure disease. In study, two mild form received (HCT) that replaced their stem cells containing healthy version gene responsible were monitored years, time normally absent did not have mental behavioral deterioration. This study suggests might help slow progress be improved treatment. However, further longer-term studies required investigate further.

Язык: Английский

Mass spectrometry-based metabolomics in health and medical science: a systematic review DOI Creative Commons
Xiwu Zhang,

Qiu-Han Li,

Zuo-di Xu

и другие.

RSC Advances, Год журнала: 2020, Номер 10(6), С. 3092 - 3104

Опубликована: Янв. 1, 2020

Metabolomics is the study of investigation small molecules derived from cellular and organism metabolism, which reflects outcomes complex network biochemical reactions in living systems.

Язык: Английский

Процитировано

158
Precision of a Clinical Metabolomics Profiling Platform for Use in the Identification of Inborn Errors of Metabolism DOI Open Access

Lisa A. Ford,

Adam D. Kennedy,

Kelli D. Goodman

и другие.

The Journal of Applied Laboratory Medicine, Год журнала: 2020, Номер 5(2), С. 342 - 356

Опубликована: Янв. 2, 2020

The application of whole-exome sequencing for the diagnosis genetic disease has paved way systems-based approaches in clinical laboratory. Here, we describe a metabolomics method screening metabolic diseases through analysis multi-pronged mass spectrometry platform. By simultaneously measuring hundreds metabolites single sample, offers comprehensive approach to identify perturbations across multiple biochemical pathways.We conducted single- and multi-day precision study on human plasma 4, multi-arm, high-throughput platforms.The average laboratory coefficient variation (CV) 4 platforms was between 9.3 11.5% (median, 6.5-8.4%), inter-assay CV ranged from 9.9 12.6% 7.0-8.3%) intra-assay 5.7 6.9% 3.5-4.4%). In relation patient sample testing, biomarkers associated with IEM disorders showed CVs that 0.2 11.0% analytical batches.This evaluation describes identical platforms, comprised each independent arms, reproducibility measurement key samples batches, providing evidence is robust reproducible patients inborn errors metabolism.

Язык: Английский

Процитировано

138
Metabolomics for personalized medicine: the input of analytical chemistry from biomarker discovery to point-of-care tests DOI Creative Commons
Florence Castelli, Giulio Rosati, Christian Moguet

и другие.

Analytical and Bioanalytical Chemistry, Год журнала: 2021, Номер 414(2), С. 759 - 789

Опубликована: Авг. 25, 2021

Abstract Metabolomics refers to the large-scale detection, quantification, and analysis of small molecules (metabolites) in biological media. Although metabolomics, alone or combined with other omics data, has already demonstrated its relevance for patient stratification frame research projects clinical studies, much remains be done move this approach practice. This is especially true perspective being applied personalized/precision medicine, which aims at stratifying patients according their risk developing diseases, tailoring medical treatments individual characteristics order improve efficacy limit toxicity. In review article, we discuss main challenges linked analytical chemistry that need addressed foster implementation metabolomics clinics use data produced by personalized medicine. First all, there are well-known issues related untargeted workflows levels production (lack standardization), metabolite identification (small proportion annotated features identified metabolites), processing (from automatic detection multi-omic integration) hamper inter-operability reusability data. Furthermore, outputs complex molecular signatures few tens metabolites, often abundance variations, obtained expensive laboratory equipment. It thus necessary simplify these so they can used field. last point, still poorly community, may crucial a near future increased availability societal demand participatory Graphical abstract

Язык: Английский

Процитировано

80
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism DOI Creative Commons
Ning Liu, Jing Xiao,

Charul Gijavanekar

и другие.

JAMA Network Open, Год журнала: 2021, Номер 4(7), С. e2114155 - e2114155

Опубликована: Июль 12, 2021

Importance

Recent advances in newborn screening (NBS) have improved the diagnosis of inborn errors metabolism (IEMs); however, many potentially treatable IEMs are not included on NBS panels, nor they covered standard, first-line biochemical testing.

Objective

To examine utility untargeted metabolomics as a primary tool for by comparing diagnostic rate clinical with recommended traditional metabolic approach.

Design, Setting, and Participants

This cross-sectional study compares data from 4464 samples received 1483 unrelated families referred trio testing plasma amino acids, acylcarnitine profiling, urine organic acids (June 2014 to October 2018) 2000 consecutive 1807 (July February 2019) metabolomic at College American Pathologists Clinical Laboratory Improvement Amendments–certified genetics laboratory. Data analysis was performed September 2019 August 2020.

Exposures

Metabolic molecular tests genetic reference laboratory US available information each patient were assessed determine rate.

Main Outcomes Measures

The compared profiling context expanded NBS.

Results

Of cases screened approach, 912 patients (61.5%) male 1465 (98.8%) pediatric (mean [SD] age, 4.1 [6.0] years; range, 0-65 years). A total 19 identified IEMs, resulting 1.3% 14 detected, including 3 conditions Recommended Uniform Screening Panel undergoing 1059 (58.6%) male, 1665 (92.1%) 8.1 [10.4] 0-80 128 unique giving an overall 7.1%. In total, 70 different identified, 49 presently

Conclusions Relevance

These findings suggest that provided 6-fold higher yield conventional approach broader spectrum IEMs. Notably, expansion programs, approaches identify few disorders beyond those support capability should be considered initial evaluation disorders.

Язык: Английский

Процитировано

60
The transition from genomics to phenomics in personalized population health DOI
James T. Yurkovich, Simon J. Evans, Noa Rappaport

и другие.

Nature Reviews Genetics, Год журнала: 2023, Номер 25(4), С. 286 - 302

Опубликована: Дек. 13, 2023

Язык: Английский

Процитировано

24
Simultaneous Analysis of Organic Acids, Glycerol and Phenolic Acids in Wines Using Gas Chromatography-Mass Spectrometry DOI Creative Commons

Violeta García-Viñola,

Candela Ruiz-de-Villa, Jordi Gombau

и другие.

Foods, Год журнала: 2024, Номер 13(2), С. 186 - 186

Опубликована: Янв. 5, 2024

Fermented beverages, particularly wines, exhibit variable concentrations of organic and phenolic acids, posing challenges in their accurate determination. Traditionally, enzymatic methods or chromatographic analyses, mainly high-performance liquid chromatography (HPLC), have been employed to quantify these compounds individually the grape must wine. However, analyses face limitations due high sugar content must. Meanwhile, found higher quantities red wines than white are typically analyzed using HPLC. This study presents a novel method for quantification acids (OAs), glycerol, musts wines. The approach involves liquid-liquid extraction with ethyl acetate, followed by sample derivatization analysis gas chromatography-mass spectrometry (GC-MS) selected ion monitoring (SIM) detection mode. results indicated successful all without need dilution. our showed that adding external standards was more suitable quantifying wine compounds, owing matrix effect. Furthermore, this is promising other metabolites present depending on extractability acetate. proposed (i) methoximation basic medium, (ii) acidification HCl, (iii) (iv) silyl analyze samples mode (SIM). In words, may be profiling (targeted) fingerprinting (untargeted) strategies classify according type winemaking process, grape, fermentation.

Язык: Английский

Процитировано

11
Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions DOI Creative Commons
Kevin E. Glinton, Sarah H. Elsea

Frontiers in Psychiatry, Год журнала: 2019, Номер 10

Опубликована: Сен. 10, 2019

Autism spectrum disorders (ASDs) are a group of neurodevelopment characterized by childhood onset deficits in social communication and interaction. Although the exact etiology most cases ASDs is unknown, portion has been proposed to be associated with various metabolic abnormalities including mitochondrial dysfunction, cholesterol metabolism, folate abnormalities. Targeted biochemical testing like plasma amino acid acylcarnitine profiles have demonstrated limited utility helping diagnose manage such patients. Untargeted metabolomics emerged, however, as promising tool screening for underlying managing treatment means investigating possible novel biomarkers disorder. Here, we review principles methodology behind untargeted metabolomics, recent pilot studies utilizing this technology, areas which it may integrated into care children disorder future.

Язык: Английский

Процитировано

63
Mass spectrometry based proteomics and metabolomics in personalized oncology DOI Creative Commons
Tomasz Kowalczyk, Michał Ciborowski, Joanna Kiśluk

и другие.

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, Год журнала: 2020, Номер 1866(5), С. 165690 - 165690

Опубликована: Янв. 18, 2020

Язык: Английский

Процитировано

59
Defining Blood Plasma and Serum Metabolome by GC-MS DOI Creative Commons
Olga I. Kiseleva, Ilya Y. Kurbatov, Ekaterina V. Ilgisonis

и другие.

Metabolites, Год журнала: 2021, Номер 12(1), С. 15 - 15

Опубликована: Дек. 24, 2021

Metabolomics uses advanced analytical chemistry methods to analyze metabolites in biological samples. The most intensively studied samples are blood and its liquid components: plasma serum. Armed with equipment progressive software solutions, the scientific community has shown that small molecules’ roles living systems not limited traditional “building blocks” or “just fuel” for cellular energy. As a result, conclusions based on studying metabolome finding practical reflection molecular medicine better understanding of fundamental biochemical processes systems. This review is detailed protocol metabolomic analysis. However, it should support reader information about achievements whole process metabolic exploration human serum using mass spectrometry combined gas chromatography.

Язык: Английский

Процитировано

47
Current State and Future Perspectives on Personalized Metabolomics DOI Creative Commons
Oxana P. Trifonova, Dmitry L. Maslov, Elena E. Balashova

и другие.

Metabolites, Год журнала: 2023, Номер 13(1), С. 67 - 67

Опубликована: Янв. 1, 2023

Metabolomics is one of the most promising ‘omics’ sciences for implementation in medicine by developing new diagnostic tests and optimizing drug therapy. Since metabolomics, end products biochemical processes an organism are studied, which under influence both genetic environmental factors, metabolomics analysis can detect any changes associated with lifestyle pathological processes. Almost every case-controlled study shows a high accuracy. Taking into account that already described nosologies, there prerequisites high-speed comprehensive metabolite will replace, near future, narrow range chemical analyses used today, medical community. However, despite perspectives personalized currently no FDA-approved tests. The well-known problem complexity data their interpretation end-users, addition to traditional need analytical methods address quality control, standardization, treatment reported review. Possible ways solve problems change situation introduction clinical practice, also discussed.

Язык: Английский

Процитировано

21