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Article ; Online: A metabolomics approach to investigate urine levels of neurotransmitters and related metabolites in autistic children.

Gevi, Federica / Belardo, Antonio / Zolla, Lello

Biochimica et biophysica acta. Molecular basis of disease

2020 Volume 1866, Issue 10, Page(s) 165859

Abstract: Since recently metabolic abnormalities in autistic children have been associated with ASD disturbs, the aim of this study is to determine the neurotransmitter levels in urine samples of autistic children and to analyse the altered metabolic pathway ... ...

Abstract	Since recently metabolic abnormalities in autistic children have been associated with ASD disturbs, the aim of this study is to determine the neurotransmitter levels in urine samples of autistic children and to analyse the altered metabolic pathway involved in their production. Thus, ASD-specific urinary metabolomic patterns were explored in 40 ASD children and 40 matched controls using untargeted metabolomics through UHPLC-mass spectrometry (Q-exactive analyser), and by using XCMS Metlin software for data interpretation. Through this new advanced technique, a more considerable number of urinary altered metabolites were recorded in autistic children, than in the previous investigations, which allowed us to collect metabolites involved in neurotransmitter production. In these subjects, a high amount of dopamine was revealed and an increased amount of homovanillic acid, to the detriment of noradrenaline and adrenaline production, as well as MHPG and vanillylmandelic acid, which were found lower. This indicates that the accumulation of dopamine is not due to its greater production, but its lesser biotransformation into noradrenaline, due to the blockage of the dopamine β-hydroxylase enzyme by 4-cresol and vitamin C, both found in high quantities in autistic subjects. Finally, a decreased amount of the active form of vitamin B6, pyridoxal phosphate (P5P), implicated in biotransformation of glutamate into γ-aminobutyric acid (GABA), was also detected, justifying the lower levels of latter. All of these alterations are correlated with a peculiar intestinal microbiome in autistic subjects, supporting the idea of a microbiota-gut-brain axis, then altered levels of neurotransmitters and altered neuronal transmission exist.
MeSH term(s)	Autism Spectrum Disorder/metabolism ; Autism Spectrum Disorder/physiopathology ; Autism Spectrum Disorder/urine ; Brain/cytology ; Brain/metabolism ; Brain/physiopathology ; Case-Control Studies ; Child ; Child, Preschool ; Cresols/metabolism ; Cresols/urine ; Female ; Gastrointestinal Microbiome/physiology ; Humans ; Male ; Metabolic Networks and Pathways ; Metabolomics ; Neurotransmitter Agents/metabolism ; Neurotransmitter Agents/urine ; Pyridoxal Phosphate/metabolism ; Pyridoxal Phosphate/urine ; Synaptic Transmission/physiology
Chemical Substances	Cresols ; Neurotransmitter Agents ; 4-cresol (1MXY2UM8NV) ; Pyridoxal Phosphate (5V5IOJ8338)
Language	English
Publishing date	2020-06-05
Publishing country	Netherlands
Document type	Journal Article ; Observational Study
ZDB-ID	60-7
ISSN	1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
ISSN (online)	1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
ISSN	0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
DOI	10.1016/j.bbadis.2020.165859
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Article ; Online: Gene Expression Profiling as a New Real-Time Assay in Human Biomonitoring of Waste-to-Energy Plant Workers.

Balzerano, Alessio / Gevi, Federica / Nisi, Stefano / Rinalducci, Sara / Lasagni, Marzio / Arisi, Ivan

Biological trace element research

2022 Volume 201, Issue 8, Page(s) 3688–3696

Abstract: Exposure to heavy metals represents one of the most important risk factors for the health of incinerator workers. Indeed, heavy metals can determine increased generation of reactive oxygen species (ROS). In this work, we introduced the use of ... ...

Abstract	Exposure to heavy metals represents one of the most important risk factors for the health of incinerator workers. Indeed, heavy metals can determine increased generation of reactive oxygen species (ROS). In this work, we introduced the use of transcription profiling of detoxifying genes, involved in redox balance and genome integrity, as a highly sensitive assay of heavy metal exposure and subsequent oxidative stress. For this purpose, blood mRNA levels of OGG1, ST13, NQO1 and MT1A genes, as well as urinary concentrations of nine heavy metals and the oxidized base 8-OHdG of 49 subjects (26 controls and 23 employees in the waste-to-energy plant of San Zeno, Arezzo, Italy) were determined. No significant difference between the two populations was observed, thus highlighting, as far as the biomarkers analysed are concerned, the absence of occupational exposure to heavy metals and systemic oxidative stress induction in the workers of the waste-to-energy plant of San Zeno. Correlation analyses underline a close association between heavy metals exposure and changes in expression levels of a number of genes, even at low exposure doses, thus remarking the greater capacity of detection of transcription profiling compared to other biomarkers and the importance of its introduction in future human biomonitoring programs.
MeSH term(s)	Humans ; Biological Monitoring ; Metals, Heavy/analysis ; Occupational Exposure/adverse effects ; Occupational Exposure/analysis ; Oxidative Stress/genetics ; Plants ; Gene Expression Profiling
Chemical Substances	Metals, Heavy
Language	English
Publishing date	2022-11-17
Publishing country	United States
Document type	Journal Article
ZDB-ID	445336-0
ISSN	1559-0720 ; 0163-4984
ISSN (online)	1559-0720
ISSN	0163-4984
DOI	10.1007/s12011-022-03482-2
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Article: The concomitant lower concentrations of vitamins B6, B9 and B12 may cause methylation deficiency in autistic children

Belardo, Antonio / Gevi, Federica / Zolla, Lello

Journal of nutritional biochemistry. 2019 Aug., v. 70

2019

Abstract: Autism spectrum disorder (ASD) is characterized by severe and persistent difficulties in social communication and social interaction at multiple levels. Recently, metabolic disorders have been associated with most cases of patients with ASD. The aim of ... ...

Abstract	Autism spectrum disorder (ASD) is characterized by severe and persistent difficulties in social communication and social interaction at multiple levels. Recently, metabolic disorders have been associated with most cases of patients with ASD. The aim of this study was to investigate, through a new and more sophisticated mass technique, such as UHPLC-mass spectrometry (Q-exactive analyzer), alteration in metabolisms analyzing ASD children urine samples from children showing simultaneous vitamin B6, B9 and B12 deficiencies. This in order to study how these concurrent deficiencies may influence some phenotypic aspects of autistic disorder. Thus, urinary metabolic patterns specific to ASD were explored at an early age in 60 children with ASD, showing lower three vitamins levels, and 60 corresponding controls (age group 3–8, M: F=42:18). The results showed significant block of cystathionine formation with consequent accumulation of homocysteine. A lower glutathione levels (GSH), with reduction of essential intracellular reducing environment required for normal immune function, detoxification capacity and redox-sensitive enzyme activity. Increased concentration of 5-methyltetrahydrofolate, which leads to a lower availability of methyl group and significant decrease in urinary methionine and S-adenosyl-L-methionine (SAM) concentrations, the major methyl donor. The latter justify the well-known reduction in protein and DNA methylation reported in autistic children. As a final consideration, the concomitant deficiencies of all three B vitamins, recorded in a significant number of autistic children, suggests that intestinal dysbiosis in these patients may be the main cause of a reduction in their absorption, in addition to the genetic mutation of a specific gene.
Keywords	absorption ; autism ; children ; cystathionine ; DNA methylation ; dysbiosis ; enzyme activity ; folic acid ; genes ; glutathione ; homocysteine ; immune response ; intestines ; metabolic diseases ; moieties ; mutation ; patients ; phenotype ; pyridoxine ; S-adenosylmethionine ; social behavior ; spectroscopy ; urine ; vitamin B12
Language	English
Dates of publication	2019-08
Size	p. 38-46.
Publishing place	Elsevier Inc.
Document type	Article
ZDB-ID	1014929-6
ISSN	1873-4847 ; 0955-2863
ISSN (online)	1873-4847
ISSN	0955-2863
DOI	10.1016/j.jnutbio.2019.04.004
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Article ; Online: Untargeted Metabolomics of Plant Leaf Tissues.

Gevi, Federica / Fanelli, Giuseppina / Zolla, Lello / Rinalducci, Sara

Methods in molecular biology (Clifton, N.J.)

2019 Volume 1978, Page(s) 187–195

Abstract: Untargeted metabolomics is a useful approach for the simultaneous analysis of a vast array of compounds from a single extract. Metabolomic profiling is the relative multi-parallel quantification of a mixture of low molecular weight compounds, or classes ... ...

Abstract	Untargeted metabolomics is a useful approach for the simultaneous analysis of a vast array of compounds from a single extract. Metabolomic profiling is the relative multi-parallel quantification of a mixture of low molecular weight compounds, or classes of compounds, and it is most often performed by using ultra performance liquid chromatography (UPLC) coupled with mass spectrometry (MS). Being an extension of the classical targeted methods, this approach allows a broader view of the main biochemical events within a particular sample. This chapter exemplifies and provides experimental details on the basic steps to perform a non-targeted metabolomic analysis on plant leaf tissues: sample collection and homogenization, extraction of metabolites, raw data acquisition, and processing into formats for data mining and informatics. In particular, the approach was applied to two spring wheat varieties with different level of drought tolerance (Kavir, drought-resistant; Bahar, drought-sensitive) developed by the CIMMYT (International Center for the Improvement of Corn and Wheat).
MeSH term(s)	Chromatography, High Pressure Liquid ; Metabolomics/methods ; Plant Leaves/metabolism ; Tandem Mass Spectrometry ; Triticum/metabolism
Language	English
Publishing date	2019-05-22
Publishing country	United States
Document type	Journal Article
ISSN	1940-6029
ISSN (online)	1940-6029
DOI	10.1007/978-1-4939-9236-2_12
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Article ; Online: The concomitant lower concentrations of vitamins B6, B9 and B12 may cause methylation deficiency in autistic children.

Belardo, Antonio / Gevi, Federica / Zolla, Lello

The Journal of nutritional biochemistry

2019 Volume 70, Page(s) 38–46

Abstract	Autism spectrum disorder (ASD) is characterized by severe and persistent difficulties in social communication and social interaction at multiple levels. Recently, metabolic disorders have been associated with most cases of patients with ASD. The aim of this study was to investigate, through a new and more sophisticated mass technique, such as UHPLC-mass spectrometry (Q-exactive analyzer), alteration in metabolisms analyzing ASD children urine samples from children showing simultaneous vitamin B6, B9 and B12 deficiencies. This in order to study how these concurrent deficiencies may influence some phenotypic aspects of autistic disorder. Thus, urinary metabolic patterns specific to ASD were explored at an early age in 60 children with ASD, showing lower three vitamins levels, and 60 corresponding controls (age group 3-8, M: F=42:18). The results showed significant block of cystathionine formation with consequent accumulation of homocysteine. A lower glutathione levels (GSH), with reduction of essential intracellular reducing environment required for normal immune function, detoxification capacity and redox-sensitive enzyme activity. Increased concentration of 5-methyltetrahydrofolate, which leads to a lower availability of methyl group and significant decrease in urinary methionine and S-adenosyl-L-methionine (SAM) concentrations, the major methyl donor. The latter justify the well-known reduction in protein and DNA methylation reported in autistic children. As a final consideration, the concomitant deficiencies of all three B vitamins, recorded in a significant number of autistic children, suggests that intestinal dysbiosis in these patients may be the main cause of a reduction in their absorption, in addition to the genetic mutation of a specific gene.
MeSH term(s)	5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/metabolism ; Autism Spectrum Disorder/urine ; Child ; Child, Preschool ; Chromatography, High Pressure Liquid ; Cystathionine/metabolism ; Female ; Folic Acid/urine ; Glutathione/metabolism ; Homocysteine/blood ; Humans ; Male ; Mass Spectrometry ; Methionine/urine ; Methylation ; Mutation ; Oxidation-Reduction ; Phenotype ; Vitamin B 12/urine ; Vitamin B 6/urine
Chemical Substances	Homocysteine (0LVT1QZ0BA) ; Cystathionine (375YFJ481O) ; Vitamin B 6 (8059-24-3) ; Folic Acid (935E97BOY8) ; Methionine (AE28F7PNPL) ; 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase (EC 2.1.1.13) ; Glutathione (GAN16C9B8O) ; Vitamin B 12 (P6YC3EG204)
Language	English
Publishing date	2019-04-24
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1014929-6
ISSN	1873-4847 ; 0955-2863
ISSN (online)	1873-4847
ISSN	0955-2863
DOI	10.1016/j.jnutbio.2019.04.004
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Article: Metabolomics of Dry Versus Reanimated Antarctic Lichen-Dominated Endolithic Communities.

Fanelli, Giuseppina / Coleine, Claudia / Gevi, Federica / Onofri, Silvano / Selbmann, Laura / Timperio, Anna Maria

Life (Basel, Switzerland)

2021 Volume 11, Issue 2

Abstract: Cryptoendolithic communities are almost the sole life form in the ice-free areas of the Antarctic desert, encompassing among the most extreme-tolerant organisms known on Earth that still assure ecosystems functioning, regulating nutrient and ... ...

Abstract	Cryptoendolithic communities are almost the sole life form in the ice-free areas of the Antarctic desert, encompassing among the most extreme-tolerant organisms known on Earth that still assure ecosystems functioning, regulating nutrient and biogeochemical cycles under conditions accounted as incompatible with active life. If high-throughput sequencing based studies are unravelling prokaryotic and eukaryotic diversity, they are not yet characterized in terms of stress adaptations and responses, despite their paramount ecological importance. In this study, we compared the responses of Antarctic endolithic communities, with special focus on fungi, both under dry conditions (i.e., when dormant), and after reanimation by wetting, light, and optimal temperature (15 °C). We found that several metabolites were differently expressed in reanimated opposite sun exposed communities, suggesting a critical role in their success. In particular, the saccharopine pathway was up-regulated in the north surface, while the spermine/spermidine pathway was significantly down-regulated in the shaded exposed communities. The carnitine-dependent pathway is up-regulated in south-exposed reanimated samples, indicating the preferential involvement of the B-oxidation for the functioning of TCA cycle. The role of these metabolites in the performance of the communities is discussed herein.
Language	English
Publishing date	2021-01-27
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662250-6
ISSN	2075-1729
ISSN	2075-1729
DOI	10.3390/life11020096
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Article ; Online: Metabolic patterns in insulin-resistant male hypogonadism.

Gevi, Federica / Fanelli, Giuseppina / Zolla, Lello

Cell death & disease

2018 Volume 9, Issue 6, Page(s) 671

Abstract: Male hypogonadism associated with insulin resistance (IR) very often leads to metabolic syndrome, at variance with hypogonadism in its first stadium of insulin sensitivity (IS). A plasma metabolomic investigation of these patients can provide useful ... ...

Abstract	Male hypogonadism associated with insulin resistance (IR) very often leads to metabolic syndrome, at variance with hypogonadism in its first stadium of insulin sensitivity (IS). A plasma metabolomic investigation of these patients can provide useful information in comparison with the values of IS patients. To this aim plasma from insulin-resistant males with hypogonadism were analysed by using ultra high-performance liquid chromatography (UHPLC) and high-resolution mass spectrometry (HRMS). Thus, metabolites were compared to the controls through multivariate statistical analysis and grouped by metabolic pathways. Metabolite database searches and pathway analyses identified imbalances in 18-20 metabolic pathways. Glucose metabolism (e.g., glycolysis and the Krebs cycle) is fuelled by amino acids degradation, in particular of branched amino acids, in individuals with lean body mass. Gluconeogenesis is strongly activated. Some crucial pathways such as glycerol are skewed. Mitochondrial electron transport is affected with a reduction in ATP production. Beta-oxidation of short and medium chain fatty acids did not represent an energy source in hypogonadism, at variance with long and branched fatty acids, justifying the increase in fat mass. Carnosine and β-alanine are strongly reduced resulting in increased fatigue and mental confusion. A comparison of IR with IS male hypogonadism will contribute to a better understanding of how these two hormones work in synergy or antagonise each other in humans. It could also help to select patients who will respond to hormone treatment, and provide accurate biomarkers to measure the response to treatment eventually leading to better strategies in preventing systemic complications in patients not fit for hormone replacement therapy.
MeSH term(s)	Acetyl Coenzyme A/metabolism ; Adult ; Amino Acids/blood ; Carnosine/metabolism ; Citric Acid Cycle ; Glucose/metabolism ; Glycerol/metabolism ; Glycolysis ; Humans ; Hypogonadism/blood ; Hypogonadism/metabolism ; Insulin Resistance ; Male ; Metabolome ; Metabolomics ; Middle Aged ; beta-Alanine/metabolism
Chemical Substances	Amino Acids ; beta-Alanine (11P2JDE17B) ; Acetyl Coenzyme A (72-89-9) ; Carnosine (8HO6PVN24W) ; Glucose (IY9XDZ35W2) ; Glycerol (PDC6A3C0OX)
Language	English
Publishing date	2018-04-22
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2541626-1
ISSN	2041-4889 ; 2041-4889
ISSN (online)	2041-4889
ISSN	2041-4889
DOI	10.1038/s41419-018-0587-9
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Article ; Online: Metabolic patterns in insulin-sensitive male hypogonadism.

Fanelli, Giuseppina / Gevi, Federica / Belardo, Antonio / Zolla, Lello

Cell death & disease

2018 Volume 9, Issue 6, Page(s) 653

Abstract: Male hypogonadism is a disorder characterised by low levels of the hormone testosterone. At beginning subjects with low levels of testosterone do not show insulin resistance (insulin-sensitive patients), which develops over time (insulin-resistance ... ...

Abstract	Male hypogonadism is a disorder characterised by low levels of the hormone testosterone. At beginning subjects with low levels of testosterone do not show insulin resistance (insulin-sensitive patients), which develops over time (insulin-resistance patients). To analyse the metabolic alterations mainly related to decreased testosterone, we performed metabolomics investigations on the plasma of males with hypogonadism who showed normal insulin levels. Plasma from patients with low testosterone (<8 nmol/l) and homeostatic model assessment for insulin-resistance-index (HOMAi) < 2.5, as well as matched controls, was analysed by UHPLC and mass spectrometry. Then metabolites were then subjected to multivariate statistical analysis and grouped by metabolic pathways. Glycolysis was not altered, as expected for the presence of insulin activity, but imbalances in several other pathways were found, such as the pentose phosphate pathway (PPP), glycerol shuttle, malate shuttle, Krebs cycle (TCA) and lipid metabolism. The PPP was significantly upregulated. Moreover, while the first steps of the Krebs cycle were downregulated, 2-oxoglutarate was replenished via glutaminolysis. Since glutaminolysis leads to an activation of the malate aspartate cycle, greater amounts of NADH and ATP with respect to the control were recorded. The activation of the glycerol shuttle was also recorded, with consequent lower triglyceride production and downregulation of beta-oxidation. This explained the moderately increased dyslipidaemia, as well as the mild increase in body mass index (BMI) observed in insulin-sensitive hypogonadism. Finally, a significant decrease in carnosine was recorded, explaining the muscle weakness commonly observed.
MeSH term(s)	Adult ; Amino Acids/metabolism ; Carnosine/biosynthesis ; Citric Acid Cycle ; Energy Metabolism ; Humans ; Hypogonadism/blood ; Hypogonadism/metabolism ; Insulin Resistance ; Male ; Metabolome ; Middle Aged ; beta-Alanine/metabolism
Chemical Substances	Amino Acids ; beta-Alanine (11P2JDE17B) ; Carnosine (8HO6PVN24W)
Language	English
Publishing date	2018-04-22
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2541626-1
ISSN	2041-4889 ; 2041-4889
ISSN (online)	2041-4889
ISSN	2041-4889
DOI	10.1038/s41419-018-0588-8
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Article: Metabolomic Profile of the Fungus

Gevi, Federica / Leo, Patrick / Cassaro, Alessia / Pacelli, Claudia / de Vera, Jean-Pierre Paul / Rabbow, Elke / Timperio, Anna Maria / Onofri, Silvano

Frontiers in microbiology

2022 Volume 13, Page(s) 749396

Abstract: The identification of traces of life beyond Earth (e.g., Mars, icy moons) is a challenging task because terrestrial chemical-based molecules may be destroyed by the harsh conditions experienced on extraterrestrial planetary surfaces. For this reason, ... ...

Abstract	The identification of traces of life beyond Earth (e.g., Mars, icy moons) is a challenging task because terrestrial chemical-based molecules may be destroyed by the harsh conditions experienced on extraterrestrial planetary surfaces. For this reason, studying the effects on biomolecules of extremophilic microorganisms through astrobiological ground-based space simulation experiments is significant to support the interpretation of the data that will be gained and collected during the ongoing and future space exploration missions. Here, the stability of the biomolecules of the cryptoendolithic black fungus
Language	English
Publishing date	2022-05-12
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2587354-4
ISSN	1664-302X
ISSN	1664-302X
DOI	10.3389/fmicb.2022.749396
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Article: Urinary Untargeted Metabolic Profile Differentiates Children with Autism from Their Unaffected Siblings.

Timperio, Anna Maria / Gevi, Federica / Cucinotta, Francesca / Ricciardello, Arianna / Turriziani, Laura / Scattoni, Maria Luisa / Persico, Antonio M

Metabolites

2022 Volume 12, Issue 9

Abstract: Autism Spectrum Disorder (ASD) encompasses a clinical spectrum of neurodevelopmental conditions that display significant heterogeneity in etiology, symptomatology, and severity. We previously compared 30 young children with idiopathic ASD and 30 ... ...

Abstract	Autism Spectrum Disorder (ASD) encompasses a clinical spectrum of neurodevelopmental conditions that display significant heterogeneity in etiology, symptomatology, and severity. We previously compared 30 young children with idiopathic ASD and 30 unrelated typically-developing controls, detecting an imbalance in several compounds belonging mainly to the metabolism of purines, tryptophan and other amino acids, as well as compounds derived from the intestinal flora, and reduced levels of vitamins B6, B12 and folic acid. The present study describes significant urinary metabolomic differences within 14 pairs, including one child with idiopathic ASD and his/her typically-developing sibling, tightly matched by sex and age to minimize confounding factors, allowing a more reliable identification of the metabolic fingerprint related to ASD. By using a highly sensitive, accurate and unbiased approach, suitable for ensuring broad metabolite detection coverage on human urine, and by applying multivariate statistical analysis, we largely replicate our previous results, demonstrating a significant perturbation of the purine and tryptophan pathways, and further highlight abnormalities in the "phenylalanine, tyrosine and tryptophan" pathway, essentially involving increased phenylalanine and decreased tyrosine levels, as well as enhanced concentrations of bacterial degradation products, including phenylpyruvic acid, phenylacetic acid and 4-ethylphenyl-sulfate. The outcome of these within-family contrasts consolidates and extends our previous results obtained from unrelated individuals, adding further evidence that these metabolic imbalances may be linked to ASD rather than to environmental differences between cases and controls. It further underscores the excess of some gut microbiota-derived compounds in ASD, which could have diagnostic value in a network model differentiating the metabolome of autistic and unaffected siblings. Finally, it points toward the existence of a "metabolic autism spectrum" distributed as an endophenotype, with unaffected siblings possibly displaying a metabolic profile intermediate between their autistic siblings and unrelated typically-developing controls.
Language	English
Publishing date	2022-08-26
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662251-8
ISSN	2218-1989
ISSN	2218-1989
DOI	10.3390/metabo12090797
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