Mass Spectrometry for the Study of Autism and Neurodevelopmental Disorders

Wetie, Armand G. Ngounou; DeKroon, Robert M.; Mocanu, Mihaela M.; Ryan, Jeanne P.; Darie, Costel C.; Woods, Alisa G.

doi:10.1007/978-3-319-06068-2_26

Cited by 6 publications

(4 citation statements)

References 108 publications

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“…New relationships between metabolic paths and systems could be found, providing signatures, maps and pathophysiological networks. In autism research, proteomics and metabolomics are leading towards new diagnostic and therapeutic perspectives [80][81][82]. The same is occurring for schizophrenia [83,84] or fibromyalgia [85,86].…”

Section: Sulfur Metabolism and -Omics Techniques In Asds Schizophrenia And Fibromyalgiamentioning

confidence: 99%

Sulfur Metabolism and Sulfur-Containing Amino Acids Derivatives Â– II: Autism Spectrum Disorders, Schizophrenia and Fibromyalgia

Palego

Betti²,

Giannaccini³

2015

Biochem Pharmacol (Los Angel)

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The metabolism of sulfur (S) compounds concurs to the maintain of cell homeostasis and tissue integrity in the human body. Sulfur chemical species act in all cells as anti-oxidant/scavenging agents or regulators of membrane stability/excitability. At the same time, they also exert tissue-dependent functions behaving as protective molecules of the liver and cardiovascular system, as modulators of the immune response, gut activity and CNS neurotransmitter signaling. The involvement of S compounds in human complex, chronic, disabling diseases at multifaceted pathogenesis is actually under investigation: altered levels of S metabolites could be in fact bio-indicators of impaired oxidation state in the body and their unbalance could be risk factors for disease onset. By the present review, we will discuss data from the literature which unearth an altered S biochemistry in human complex illnesses, taking as an example highly invalidating neuropsychiatry and pain perception diseases as autism spectrum disorders (ASD), schizophrenia and fibromyalgia. As well, we will depict herein the utility at applying to this area of the clinical research high resolving -omics strategies in combination with methodological tools which specifically explore S metabolism in patients. The perspectives of these kind of analyses would be the adoption of more valuable, personalized therapeutics protocols and, possibly, an improved bio-monitoring of patients, also including their response to treatments.

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Section: Sulfur Metabolism and -Omics Techniques In Asds Schizophrenia And Fibromyalgiamentioning

confidence: 99%

Sulfur Metabolism and Sulfur-Containing Amino Acids Derivatives Â– II: Autism Spectrum Disorders, Schizophrenia and Fibromyalgia

Palego

Betti²,

Giannaccini³

2015

Biochem Pharmacol (Los Angel)

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“…Our group has recently used 2D differential in‐gel electrophoresis (2D‐DIGE) to investigate the differences between the salivary proteomes of children with ASD and matched controls. DIGE is primarily used in protein expression profiling experiments of at least two samples or conditions allowing the determination of the relative abundance of proteins . In 2D‐DIGE, proteins are labeled with fluorescent cyanine dyes (Cy2, 3, and 5) prior to 2D‐PAGE , run on 2D‐PAGE and then scanned for quantitative analysis of the two proteomes investigated .…”

Section: Ms Analysis Of Endogenous Molecules In Asdsmentioning

confidence: 99%

“…This protein was found to be upregulated in ASD in the DIGE experiments The y‐ and b‐ion series, the amino acid sequence of the peptide (top of the spectrum and the name of the protein (left) are indicated. Reprinted with permission from .…”

Section: Ms Analysis Of Endogenous Molecules In Asdsmentioning

confidence: 99%

Autism spectrum disorder: An omics perspective

Woods

Wormwood

Wetie

et al. 2014

Proteomics Clinical Apps

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Current directions in autism spectrum disorder (ASD) research may require moving beyond genetic analysis alone, based on the complexity of the disorder, heterogeneity and convergence of genetic alterations at the cellular/functional level. Mass spectrometry (MS) has been increasingly used to study CNS disorders, including ASDs. Proteomic research using MS is directed at understanding endogenous protein changes that occur in ASD. This review focuses on how MS has been used to study ASDs, with particular focus on proteomic analysis. Other neurodevelopmental disorders have been investigated using MS, including fragile X syndrome (FXS) and Smith-Lemli-Opitz Syndrome (SLOS), genetic syndromes highly associated with ASD comorbidity.

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“…Recently, there has been an intense effort to search for biological markers that will help in early diagnosis, prognosis and treatment response . Proteomics, and in particular, mass spectrometry is the method of choice for biomarker discovery in human biofluids for many indications . Our group has used Tricine‐PAGE and nanoLC‐MS/MS for the identification of putative biomarkers of ASD in serum of children with ASD compared with their matched controls.…”

Section: Introductionmentioning

confidence: 99%

Comparative two‐dimensional polyacrylamide gel electrophoresis of the salivary proteome of children with autism spectrum disorder

Wetie

Wormwood

Charette

et al. 2015

J Cellular Molecular Medi

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In the last decades, prevalence of autism spectrum disorder (ASD) has been on the rise. However, clear aetiology is still elusive and improvements in early diagnosis are needed. To uncover possible biomarkers present in ASD, we used two-dimensional polyacrylamide gel electrophoresis and nanoliquid chromatography-tandem mass spectrometry (nanoLC-MS/MS), to compare salivary proteome profiling of children with ASD and controls. A total of 889 spots were compared and only those spots with a fold change ≥1.7 and a P-value <0.05 or a fold change of ≥3.0 between ASD cases and controls were analysed by nanoLC-MS/MS. Alpha-amylase, CREB-binding protein, p532, Transferrin, Zn alpha2 glycoprotein, Zymogen granule protein 16, cystatin D and plasminogen were down-regulated in ASD. Increased expression of proto-oncogene Frequently rearranged in advanced T-cell lymphomas 1 (FRAT1), Kinesin family member 14, Integrin alpha6 subunit, growth hormone regulated TBC protein 1, parotid secretory protein, Prolactin-inducible protein precursor, Mucin-16, Ca binding protein migration inhibitory factor-related protein 14 (MRP14) was observed in individuals with ASD. Many of the identified proteins have previously been linked to ASD or were proposed as risk factors of ASD at the genetic level. Some others are involved in pathological pathways implicated in ASD causality such as oxidative stress, lipid and cholesterol metabolism, immune system disturbances and inflammation. These data could contribute to protein signatures for ASD presence, risk and subtypes, and advance understanding of ASD cause as well as provide novel treatment targets for ASD.

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Mass Spectrometry for the Study of Autism and Neurodevelopmental Disorders

Cited by 6 publications

References 108 publications

Sulfur Metabolism and Sulfur-Containing Amino Acids Derivatives Â– II: Autism Spectrum Disorders, Schizophrenia and Fibromyalgia

Sulfur Metabolism and Sulfur-Containing Amino Acids Derivatives Â– II: Autism Spectrum Disorders, Schizophrenia and Fibromyalgia

Autism spectrum disorder: An omics perspective

Comparative two‐dimensional polyacrylamide gel electrophoresis of the salivary proteome of children with autism spectrum disorder

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