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Alterations in Gut Vitamin and Amino Acid Metabolism are Associated with Symptoms and Neurodevelopment in Children with Autism Spectrum Disorder / Jiang ZHU in Journal of Autism and Developmental Disorders, 52-7 (July 2022)
[article]
Titre : Alterations in Gut Vitamin and Amino Acid Metabolism are Associated with Symptoms and Neurodevelopment in Children with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Jiang ZHU, Auteur ; Xueying HUA, Auteur ; Ting YANG, Auteur ; Min GUO, Auteur ; Qiu LI, Auteur ; Lu XIAO, Auteur ; Ling LI, Auteur ; Jie CHEN, Auteur ; Tingyu LI, Auteur Article en page(s) : p.3116-3128 Langues : Anglais (eng) Mots-clés : Amino Acids/metabolism Autism Spectrum Disorder/diagnosis Child Humans Intestines Metabolome Metabolomics/methods Vitamins Autism Children Metabolism Metabolomics Symptoms Vitamin Index. décimale : PER Périodiques Résumé : Metabolic disturbance may be implicated in the pathogenesis of autism. This study aimed to investigate the gut metabolomic profiles of autistic children and to analyze potential interaction between gut metabolites with autistic symptoms and neurodevelopment levels. We involved 120 autistic and 60 neurotypical children. Autistic symptoms and neurodevelopment levels were assessed. Fecal samples were analyzed using untargeted liquid chromatography-tandem mass spectrometry methods. Our results showed the metabolic disturbances of autistic children involved in multiple vitamin and amino acid metabolism pathways, with the strongest enrichment identified for tryptophan metabolism, retinol metabolism, cysteine-methionine metabolism, and vitamin digestion and absorption. Differential gut metabolites were correlated to autistic symptoms and neurodevelopment levels. Our findings improved the understanding of the perturbations of metabolome networks in autism. En ligne : http://dx.doi.org/10.1007/s10803-021-05066-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477
in Journal of Autism and Developmental Disorders > 52-7 (July 2022) . - p.3116-3128[article] Alterations in Gut Vitamin and Amino Acid Metabolism are Associated with Symptoms and Neurodevelopment in Children with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Jiang ZHU, Auteur ; Xueying HUA, Auteur ; Ting YANG, Auteur ; Min GUO, Auteur ; Qiu LI, Auteur ; Lu XIAO, Auteur ; Ling LI, Auteur ; Jie CHEN, Auteur ; Tingyu LI, Auteur . - p.3116-3128.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-7 (July 2022) . - p.3116-3128
Mots-clés : Amino Acids/metabolism Autism Spectrum Disorder/diagnosis Child Humans Intestines Metabolome Metabolomics/methods Vitamins Autism Children Metabolism Metabolomics Symptoms Vitamin Index. décimale : PER Périodiques Résumé : Metabolic disturbance may be implicated in the pathogenesis of autism. This study aimed to investigate the gut metabolomic profiles of autistic children and to analyze potential interaction between gut metabolites with autistic symptoms and neurodevelopment levels. We involved 120 autistic and 60 neurotypical children. Autistic symptoms and neurodevelopment levels were assessed. Fecal samples were analyzed using untargeted liquid chromatography-tandem mass spectrometry methods. Our results showed the metabolic disturbances of autistic children involved in multiple vitamin and amino acid metabolism pathways, with the strongest enrichment identified for tryptophan metabolism, retinol metabolism, cysteine-methionine metabolism, and vitamin digestion and absorption. Differential gut metabolites were correlated to autistic symptoms and neurodevelopment levels. Our findings improved the understanding of the perturbations of metabolome networks in autism. En ligne : http://dx.doi.org/10.1007/s10803-021-05066-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477 Decreased tryptophan metabolism in patients with autism spectrum disorders / Luigi BOCCUTO in Molecular Autism, (June 2013)
[article]
Titre : Decreased tryptophan metabolism in patients with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Luigi BOCCUTO, Auteur ; Chin-Fu CHEN, Auteur ; Ayla PITTMAN, Auteur ; Cindy SKINNER, Auteur ; Heather MCCARTNEY, Auteur ; Kelly JONES, Auteur ; Barry BOCHNER, Auteur ; Roger STEVENSON, Auteur ; Charles E. SCHWARTZ, Auteur Année de publication : 2013 Article en page(s) : 10 p. Langues : Anglais (eng) Mots-clés : Autism Biomarker Tryptophan Metabolism Screening Index. décimale : PER Périodiques Résumé : BACKGROUND:Autism spectrum disorders (ASDs) are relatively common neurodevelopmental conditions whose biological basis has been incompletely determined. Several biochemical markers have been associated with ASDs, but there is still no laboratory test for these conditions.METHODS:We analyzed the metabolic profile of lymphoblastoid cell lines from 137 patients with neurodevelopmental disorders with or without ASDs and 78 normal individuals, using Biolog Phenotype MicroArrays.RESULTS:Metabolic profiling of lymphoblastoid cells revealed that the 87 patients with ASD as a clinical feature, as compared to the 78 controls, exhibited on average reduced generation of NADH when tryptophan was the sole energy source. The results correlated with the behavioral traits associated with either syndromal or non-syndromal autism, independent of the genetic background of the individual. The low level of NADH generation in the presence of tryptophan was not observed in cell lines from non-ASD patients with intellectual disability, schizophrenia or conditions exhibiting several similarities with syndromal autism except for the behavioral traits. Analysis of a previous small gene expression study found abnormal levels for some genes involved in tryptophan metabolic pathways in 10 patients.CONCLUSIONS:Tryptophan is a precursor of important compounds, such as serotonin, quinolinic acid, and kynurenic acid, which are involved in neurodevelopment and synaptogenesis. In addition, quinolinic acid is the structural precursor of NAD+, a critical energy carrier in mitochondria. Also, the serotonin branch of the tryptophan metabolic pathway generates NADH. Lastly, the levels of quinolinic and kynurenic acid are strongly influenced by the activity of the immune system. Therefore, decreased tryptophan metabolism may alter brain development, neuroimmune activity and mitochondrial function. Our finding of decreased tryptophan metabolism appears to provide a unifying biochemical basis for ASDs and perhaps an initial step in the development of a diagnostic assay for ASDs. En ligne : http://dx.doi.org/10.1186/2040-2392-4-16 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202
in Molecular Autism > (June 2013) . - 10 p.[article] Decreased tryptophan metabolism in patients with autism spectrum disorders [Texte imprimé et/ou numérique] / Luigi BOCCUTO, Auteur ; Chin-Fu CHEN, Auteur ; Ayla PITTMAN, Auteur ; Cindy SKINNER, Auteur ; Heather MCCARTNEY, Auteur ; Kelly JONES, Auteur ; Barry BOCHNER, Auteur ; Roger STEVENSON, Auteur ; Charles E. SCHWARTZ, Auteur . - 2013 . - 10 p.
Langues : Anglais (eng)
in Molecular Autism > (June 2013) . - 10 p.
Mots-clés : Autism Biomarker Tryptophan Metabolism Screening Index. décimale : PER Périodiques Résumé : BACKGROUND:Autism spectrum disorders (ASDs) are relatively common neurodevelopmental conditions whose biological basis has been incompletely determined. Several biochemical markers have been associated with ASDs, but there is still no laboratory test for these conditions.METHODS:We analyzed the metabolic profile of lymphoblastoid cell lines from 137 patients with neurodevelopmental disorders with or without ASDs and 78 normal individuals, using Biolog Phenotype MicroArrays.RESULTS:Metabolic profiling of lymphoblastoid cells revealed that the 87 patients with ASD as a clinical feature, as compared to the 78 controls, exhibited on average reduced generation of NADH when tryptophan was the sole energy source. The results correlated with the behavioral traits associated with either syndromal or non-syndromal autism, independent of the genetic background of the individual. The low level of NADH generation in the presence of tryptophan was not observed in cell lines from non-ASD patients with intellectual disability, schizophrenia or conditions exhibiting several similarities with syndromal autism except for the behavioral traits. Analysis of a previous small gene expression study found abnormal levels for some genes involved in tryptophan metabolic pathways in 10 patients.CONCLUSIONS:Tryptophan is a precursor of important compounds, such as serotonin, quinolinic acid, and kynurenic acid, which are involved in neurodevelopment and synaptogenesis. In addition, quinolinic acid is the structural precursor of NAD+, a critical energy carrier in mitochondria. Also, the serotonin branch of the tryptophan metabolic pathway generates NADH. Lastly, the levels of quinolinic and kynurenic acid are strongly influenced by the activity of the immune system. Therefore, decreased tryptophan metabolism may alter brain development, neuroimmune activity and mitochondrial function. Our finding of decreased tryptophan metabolism appears to provide a unifying biochemical basis for ASDs and perhaps an initial step in the development of a diagnostic assay for ASDs. En ligne : http://dx.doi.org/10.1186/2040-2392-4-16 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 Urinary essential elements of young children with autism spectrum disorder and their mothers / Fatir QURESHI in Research in Autism Spectrum Disorders, 72 (April 2020)
[article]
Titre : Urinary essential elements of young children with autism spectrum disorder and their mothers Type de document : Texte imprimé et/ou numérique Auteurs : Fatir QURESHI, Auteur ; James B. ADAMS, Auteur ; Devon COLEMAN, Auteur ; David QUIG, Auteur ; Juergen HAHN, Auteur Article en page(s) : p.101518 Langues : Anglais (eng) Mots-clés : ASD Metabolism Essential elements Urine analysis Index. décimale : PER Périodiques Résumé : Background Even though the cause of autism spectrum disorders (ASD) remains unknown, the current understanding points towards complex interactions between environmental and genetic factors. One important environmental factor to consider is intake of toxic and essential elements, and their role in metabolism. Essential elements have received considerably less attention in the literature than the presence of toxins in urine. Method The purpose of this investigation is to comprehensively assess the association between urinary element compositions of 28 mothers who had young children with ASD and 29 mothers who had young typically developing (TD) children, and in a subset of their children (21 with ASD and 26 TD). Results The results show that there are significant differences between the ASD and TD children cohorts’ concentrations for four specific elements (sulfur, phosphorous, molybdenum, and tin). Utilizing multivariate statistical techniques (Fisher’s discriminant analysis and support vector machines), it was possible to distinguish the ASD from the TD children groups with an 81 % accuracy after cross-validation utilizing the four significantly different elements. However, among the mother cohorts assessed, there were no significant differences between those that had children with ASD and those with TD children. There was a significant correlation of levels of phosphorus and sulfur in the children with ASD (r?=?0.63, p?=?3.0E-3) and in the TD children (r?=?0.47, p?=?0.02). Conclusions Notable differences were observed between the elemental concentration in urine of children with ASD and their TD peers. Analyzing cellular pathways related to these elements are promising areas of future research. En ligne : https://doi.org/10.1016/j.rasd.2020.101518 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=420
in Research in Autism Spectrum Disorders > 72 (April 2020) . - p.101518[article] Urinary essential elements of young children with autism spectrum disorder and their mothers [Texte imprimé et/ou numérique] / Fatir QURESHI, Auteur ; James B. ADAMS, Auteur ; Devon COLEMAN, Auteur ; David QUIG, Auteur ; Juergen HAHN, Auteur . - p.101518.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 72 (April 2020) . - p.101518
Mots-clés : ASD Metabolism Essential elements Urine analysis Index. décimale : PER Périodiques Résumé : Background Even though the cause of autism spectrum disorders (ASD) remains unknown, the current understanding points towards complex interactions between environmental and genetic factors. One important environmental factor to consider is intake of toxic and essential elements, and their role in metabolism. Essential elements have received considerably less attention in the literature than the presence of toxins in urine. Method The purpose of this investigation is to comprehensively assess the association between urinary element compositions of 28 mothers who had young children with ASD and 29 mothers who had young typically developing (TD) children, and in a subset of their children (21 with ASD and 26 TD). Results The results show that there are significant differences between the ASD and TD children cohorts’ concentrations for four specific elements (sulfur, phosphorous, molybdenum, and tin). Utilizing multivariate statistical techniques (Fisher’s discriminant analysis and support vector machines), it was possible to distinguish the ASD from the TD children groups with an 81 % accuracy after cross-validation utilizing the four significantly different elements. However, among the mother cohorts assessed, there were no significant differences between those that had children with ASD and those with TD children. There was a significant correlation of levels of phosphorus and sulfur in the children with ASD (r?=?0.63, p?=?3.0E-3) and in the TD children (r?=?0.47, p?=?0.02). Conclusions Notable differences were observed between the elemental concentration in urine of children with ASD and their TD peers. Analyzing cellular pathways related to these elements are promising areas of future research. En ligne : https://doi.org/10.1016/j.rasd.2020.101518 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=420 Development of a cell-based metabolic test for the identification of individuals with autism spectrum disorder / Rini PAULY in Research in Autism Spectrum Disorders, 85 (July 2021)
[article]
Titre : Development of a cell-based metabolic test for the identification of individuals with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Rini PAULY, Auteur ; Lauren CASCIO, Auteur ; Sujata SRIKANTH, Auteur ; Kelly JONES, Auteur ; Skylar SORROW, Auteur ; Rossana CUBILLAN, Auteur ; Chin-Fu CHEN, Auteur ; Cindy SKINNER, Auteur ; Kevin CHAMPAIGNE, Auteur ; Roger E. STEVENSON, Auteur ; Charles E. SCHWARTZ, Auteur ; Luigi BOCCUTO, Auteur Article en page(s) : 101790 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD) Tryptophan Metabolism Diagnostic test Screening test Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a common neurodevelopmental condition with a tremendous impact on society and families. The biological basis of ASD has yet to be completely understood and there are no laboratory tests for this condition. Phenotype Mammalian Microarrays (PM-Ms) can distinguish patients with ASD from typically developing (TD) individuals by differential utilization of the amino acid tryptophan. By assessing several parameters of the assay utilizing customized tryptophan-containing PM-M plates, we improved the discrimination of the test, optimized test parameters, and minimized background noise by normalization while controlling for false discoveries. This improved platform can provide the first cell-based metabolic test to validate the clinical diagnosis of ASD and possibly identify individuals at risk even before the occurrence of neuro-behavioral symptoms. En ligne : https://doi.org/10.1016/j.rasd.2021.101790 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=458
in Research in Autism Spectrum Disorders > 85 (July 2021) . - 101790[article] Development of a cell-based metabolic test for the identification of individuals with autism spectrum disorder [Texte imprimé et/ou numérique] / Rini PAULY, Auteur ; Lauren CASCIO, Auteur ; Sujata SRIKANTH, Auteur ; Kelly JONES, Auteur ; Skylar SORROW, Auteur ; Rossana CUBILLAN, Auteur ; Chin-Fu CHEN, Auteur ; Cindy SKINNER, Auteur ; Kevin CHAMPAIGNE, Auteur ; Roger E. STEVENSON, Auteur ; Charles E. SCHWARTZ, Auteur ; Luigi BOCCUTO, Auteur . - 101790.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 85 (July 2021) . - 101790
Mots-clés : Autism spectrum disorder (ASD) Tryptophan Metabolism Diagnostic test Screening test Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a common neurodevelopmental condition with a tremendous impact on society and families. The biological basis of ASD has yet to be completely understood and there are no laboratory tests for this condition. Phenotype Mammalian Microarrays (PM-Ms) can distinguish patients with ASD from typically developing (TD) individuals by differential utilization of the amino acid tryptophan. By assessing several parameters of the assay utilizing customized tryptophan-containing PM-M plates, we improved the discrimination of the test, optimized test parameters, and minimized background noise by normalization while controlling for false discoveries. This improved platform can provide the first cell-based metabolic test to validate the clinical diagnosis of ASD and possibly identify individuals at risk even before the occurrence of neuro-behavioral symptoms. En ligne : https://doi.org/10.1016/j.rasd.2021.101790 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=458