Urine proteome analysis to evaluate protein biomarkers in children with autism

Suganya, Vijayashankar; Geetha, A; Sridharan, Sujatha

doi:10.1016/j.cca.2015.08.015

Cited by 19 publications

(8 citation statements)

References 34 publications

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“…Fewer proteomics studies on ASD have been published than those based on other disciplines, such as genomics or transcriptomics. Many of them rely on post-mortem brain tissues [ 50 , 51 , 52 ], serum [ 53 , 54 , 55 , 56 ], plasma [ 57 , 58 , 59 ], urine [ 63 ], saliva [ 60 , 61 , 62 ] direct samples or lymphoblastoid cell lines [ 64 ] ( Table 1 ).…”

Section: Translational and Clinical Proteomicsmentioning

confidence: 99%

Proteomics and Metabolomics Approaches towards a Functional Insight onto AUTISM Spectrum Disorders: Phenotype Stratification and Biomarker Discovery

Ristori

Mortera

Marzano

et al. 2020

IJMS

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Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by behavioral alterations and currently affect about 1% of children. Significant genetic factors and mechanisms underline the causation of ASD. Indeed, many affected individuals are diagnosed with chromosomal abnormalities, submicroscopic deletions or duplications, single-gene disorders or variants. However, a range of metabolic abnormalities has been highlighted in many patients, by identifying biofluid metabolome and proteome profiles potentially usable as ASD biomarkers. Indeed, next-generation sequencing and other omics platforms, including proteomics and metabolomics, have uncovered early age disease biomarkers which may lead to novel diagnostic tools and treatment targets that may vary from patient to patient depending on the specific genomic and other omics findings. The progressive identification of new proteins and metabolites acting as biomarker candidates, combined with patient genetic and clinical data and environmental factors, including microbiota, would bring us towards advanced clinical decision support systems (CDSSs) assisted by machine learning models for advanced ASD-personalized medicine. Herein, we will discuss novel computational solutions to evaluate new proteome and metabolome ASD biomarker candidates, in terms of their recurrence in the reviewed literature and laboratory medicine feasibility. Moreover, the way to exploit CDSS, performed by artificial intelligence, is presented as an effective tool to integrate omics data to electronic health/medical records (EHR/EMR), hopefully acting as added value in the near future for the clinical management of ASD.

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Section: Translational and Clinical Proteomicsmentioning

confidence: 99%

Proteomics and Metabolomics Approaches towards a Functional Insight onto AUTISM Spectrum Disorders: Phenotype Stratification and Biomarker Discovery

Ristori

Mortera

Marzano

et al. 2020

IJMS

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“…26 Similarly, proteome analysis revealed some autism-associated biomarkers, such as urinary kininogen 1. 27 …”

Section: Introductionmentioning

confidence: 99%

Expression of Reactive Oxygen Species–Related Transcripts in Egyptian Children With Autism

et al. 2017

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The molecular basis of the pathophysiological role of oxidative stress in autism is understudied. Herein, we used polymerase chain reaction (PCR) array to analyze transcriptional pattern of 84 oxidative stress genes in peripheral blood mononuclear cell pools isolated from 32 autistic patients (16 mild/moderate and 16 severe) and 16 healthy subjects (each sample is a pool from 4 autistic patients or 4 controls). The PCR array data were further validated by quantitative real-time PCR in 80 autistic children (55 mild/moderate and 25 severe) and 60 healthy subjects. Our data revealed downregulation in GCLM, SOD2, NCF2, PRNP, and PTGS2 transcripts (1.5, 3.8, 1.2, 1.7, and 2.2, respectively;P < .05 for all) in autistic group compared with controls. In addition, TXN and FTH1 exhibited 1.4- and 1.7-fold downregulation, respectively, in severe autistic patients when compared with mild/moderate group (P = .005 and .0008, respectively). This study helps in a better understanding of the underlying biology and related genetic factors of autism, and most importantly, it presents suggested candidate biomarkers for diagnosis and prognosis purposes as well as targets for therapeutic intervention.

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“…Out of the significantly different urine analysis, three overexpressed peptides were identified as kininogen-1 (KNG-1)-50, IgG1 heavy chain variable region, and mannan-binding lectin serine protease-2 isoform-2 precursor-45. The abnormal formation of KNG-1 as an important regulator of urokinase plasminogen activator receptor is involved in cell migration and proliferation [51]. The increase of urinary KNG-1 levels in all the tested autistic children highlights the possibility of using this protein as a diagnostic marker.…”

Section: Autismmentioning

confidence: 86%

Biomarkers-Directed Strategies to Treat Autism

El‐Ansary¹,

Dera²

2016

Role of Biomarkers in Medicine

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Autism is a neurodevelopmental disorder characterized by social, communication, and behavioral symptoms. Recent research has attempted to identify the potential mechanisms that may contribute to the pathogenesis of autism. Biomarkers as noninvasive quantitative biological measures with accurate indication of a specific mechanism can lead to a better understanding of the pathogenesis required to design the most effective treatments of autism. There is also great hope that the discovery of valid and predictive biomarkers for this disorder will help earlier and more targeted methods for diagnosis and intervention. In this chapter, we discuss some of the current theorized mechanisms contributing to autism, including inflammation, oxidative stress, impaired detoxification, glutamate excitotoxicity, gut-microbiota-brain axis, impaired fatty acid profiling, and serotonin (5-HT)/oxytocin (OT) abnormalities as target to treat autism. Moreover, based on our understanding of the role of these mechanisms, selected treatment strategies are suggested. These strategies include nutraceuticals, probiotics/prebiotics and ω-3 supplementation, targeting glutamate transporters or selective 5-HT reuptake inhibitors, and intranasal OT treatment. Of course, the joint efforts of scientists, caregivers, and other stakeholders must combine to identify valid, clinically useful autism biomarkers that may lead to efficient treatment strategy and/or combined strategies.

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Urine proteome analysis to evaluate protein biomarkers in children with autism

Cited by 19 publications

References 34 publications

Proteomics and Metabolomics Approaches towards a Functional Insight onto AUTISM Spectrum Disorders: Phenotype Stratification and Biomarker Discovery

Proteomics and Metabolomics Approaches towards a Functional Insight onto AUTISM Spectrum Disorders: Phenotype Stratification and Biomarker Discovery

Expression of Reactive Oxygen Species–Related Transcripts in Egyptian Children With Autism

Biomarkers-Directed Strategies to Treat Autism

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