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Auteur A. VIGNINI |
Documents disponibles écrits par cet auteur (2)
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Na(+) , K(+) -ATPase activity in children with autism spectrum disorder: Searching for the reason(s) of its decrease in blood cells / A. BOLOTTA in Autism Research, 11-10 (October 2018)
[article]
Titre : Na(+) , K(+) -ATPase activity in children with autism spectrum disorder: Searching for the reason(s) of its decrease in blood cells Type de document : Texte imprimé et/ou numérique Auteurs : A. BOLOTTA, Auteur ; Paola VISCONTI, Auteur ; G. FEDRIZZI, Auteur ; A. GHEZZO, Auteur ; M. MARINI, Auteur ; P. MANUNTA, Auteur ; E. MESSAGGIO, Auteur ; A. POSAR, Auteur ; A. VIGNINI, Auteur ; P. M. ABRUZZO, Auteur Article en page(s) : p.1388-1403 Langues : Anglais (eng) Mots-clés : Nrf2 Na+, K+-ATPase autism spectrum disorders beta-actin endogenous ouabain erythrocyte membrane membrane lipids metals oxidative stress Index. décimale : PER Périodiques Résumé : Na(+) , K(+) -ATPase (NKA) activity, which establishes the sodium and potassium gradient across the cell membrane and is instrumental in the propagation of the nerve impulses, is altered in a number of neurological and neuropsychiatric disorders, including autism spectrum disorders (ASD). In the present work, we examined a wide range of biochemical and cellular parameters in the attempt to understand the reason(s) for the severe decrease in NKA activity in erythrocytes of ASD children that we reported previously. NKA activity in leukocytes was found to be decreased independently from alteration in plasma membrane fluidity. The different subunits were evaluated for gene expression in leukocytes and for protein expression in erythrocytes: small differences in gene expression between ASD and typically developing children were not apparently paralleled by differences in protein expression. Moreover, no gross difference in erythrocyte plasma membrane oxidative modifications was detectable, although oxidative stress in blood samples from ASD children was confirmed by increased expression of NRF2 mRNA. Interestingly, gene expression of some NKA subunits correlated with clinical features. Excess inhibitory metals or ouabain-like activities, which might account for NKA activity decrease, were ruled out. Plasma membrane cholesterol, but not phosphatidylcholine and phosphatidlserine, was slighty decreased in erythrocytes from ASD children. Although no compelling results were obtained, our data suggest that alteration in the erytrocyte lipid moiety or subtle oxidative modifications in NKA structure are likely candidates for the observed decrease in NKA activity. These findings are discussed in the light of the relevance of NKA in ASD. Autism Res 2018, 11: 1388-1403. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The activity of the cell membrane enzyme NKA, which is instrumental in the propagation of the nerve impulses, is severely decreased in erythrocytes from ASD children and in other brain disorders, yet no explanation has been provided for this observation. We strived to find a biological/biochemical cause of such alteration, but most queries went unsolved because of the complexity of NKA regulation. As NKA activity is altered in many brain disorders, we stress the relevance of studies aimed at understanding its regulation in ASD. En ligne : http://dx.doi.org/10.1002/aur.2002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369
in Autism Research > 11-10 (October 2018) . - p.1388-1403[article] Na(+) , K(+) -ATPase activity in children with autism spectrum disorder: Searching for the reason(s) of its decrease in blood cells [Texte imprimé et/ou numérique] / A. BOLOTTA, Auteur ; Paola VISCONTI, Auteur ; G. FEDRIZZI, Auteur ; A. GHEZZO, Auteur ; M. MARINI, Auteur ; P. MANUNTA, Auteur ; E. MESSAGGIO, Auteur ; A. POSAR, Auteur ; A. VIGNINI, Auteur ; P. M. ABRUZZO, Auteur . - p.1388-1403.
Langues : Anglais (eng)
in Autism Research > 11-10 (October 2018) . - p.1388-1403
Mots-clés : Nrf2 Na+, K+-ATPase autism spectrum disorders beta-actin endogenous ouabain erythrocyte membrane membrane lipids metals oxidative stress Index. décimale : PER Périodiques Résumé : Na(+) , K(+) -ATPase (NKA) activity, which establishes the sodium and potassium gradient across the cell membrane and is instrumental in the propagation of the nerve impulses, is altered in a number of neurological and neuropsychiatric disorders, including autism spectrum disorders (ASD). In the present work, we examined a wide range of biochemical and cellular parameters in the attempt to understand the reason(s) for the severe decrease in NKA activity in erythrocytes of ASD children that we reported previously. NKA activity in leukocytes was found to be decreased independently from alteration in plasma membrane fluidity. The different subunits were evaluated for gene expression in leukocytes and for protein expression in erythrocytes: small differences in gene expression between ASD and typically developing children were not apparently paralleled by differences in protein expression. Moreover, no gross difference in erythrocyte plasma membrane oxidative modifications was detectable, although oxidative stress in blood samples from ASD children was confirmed by increased expression of NRF2 mRNA. Interestingly, gene expression of some NKA subunits correlated with clinical features. Excess inhibitory metals or ouabain-like activities, which might account for NKA activity decrease, were ruled out. Plasma membrane cholesterol, but not phosphatidylcholine and phosphatidlserine, was slighty decreased in erythrocytes from ASD children. Although no compelling results were obtained, our data suggest that alteration in the erytrocyte lipid moiety or subtle oxidative modifications in NKA structure are likely candidates for the observed decrease in NKA activity. These findings are discussed in the light of the relevance of NKA in ASD. Autism Res 2018, 11: 1388-1403. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The activity of the cell membrane enzyme NKA, which is instrumental in the propagation of the nerve impulses, is severely decreased in erythrocytes from ASD children and in other brain disorders, yet no explanation has been provided for this observation. We strived to find a biological/biochemical cause of such alteration, but most queries went unsolved because of the complexity of NKA regulation. As NKA activity is altered in many brain disorders, we stress the relevance of studies aimed at understanding its regulation in ASD. En ligne : http://dx.doi.org/10.1002/aur.2002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369 The ALA5/ALA6/ALA7 repeat polymorphisms of the glutathione peroxidase-1 (GPx1) gene and autism spectrum disorder / F. CARDUCCI in Autism Research, 15-2 (February 2022)
[article]
Titre : The ALA5/ALA6/ALA7 repeat polymorphisms of the glutathione peroxidase-1 (GPx1) gene and autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : F. CARDUCCI, Auteur ; C. ARDICCIONI, Auteur ; R. FIORINI, Auteur ; A. VIGNINI, Auteur ; A. DI PAOLO, Auteur ; S. ALIA, Auteur ; M. BARUCCA, Auteur ; M. A. BISCOTTI, Auteur Article en page(s) : p.215-221 Langues : Anglais (eng) Mots-clés : Asd GPx1 genetic screening GPx1 in vitro protein production GPx1 polymorphisms GPx1 protein activity autism spectrum disorder glutathione peroxidase 1 Index. décimale : PER Périodiques Résumé : Autism is a severe neurodevelopmental disorder leading to deficits in social interaction, communication, and several activities. An increasing number of evidence suggests a role of oxidative stress in the etiology of autism spectrum disorder (ASD). Indeed, impaired antioxidant mechanisms may lead to the inadequate removal of H(2) O(2) with a consequent increase in highly active hydroxyl radicals and other reactive oxygen species causing cellular damages. The GPx1 is one of the most important enzymes counteracting oxidative stress. In this work, we investigated a possible correlation between the GCG repeat polymorphism present in the first exon of GPx1 gene encoding a tract of five to seven alanine residues (ALA5, ALA6, and ALA7) and ASD. Our findings highlighted a high frequency of ALA5 allele in ASD subjects. Moreover, proteins corresponding to the three GPx1 variants were produced in vitro, and the evaluation of their activity showed a lower values for GPx1 having ALA5 polymorphism. The comparison of the secondary and tertiary structure predictions revealed an alpha-helix in correspondence of alanine stretch only in the case of GPx1-ALA7 variant. Finally, to better investigate protein structure, steady-state fluorescence measurements of GPx1 intrinsic tryptophan were carried out and the three tested proteins exhibited a different stability under denaturing conditions. This work demonstrates the importance in adopting a multidisciplinary strategy to comprehend the role of GPx1 in ASD. LAY SUMMARY: Results here obtained suggest a possible role of ALA5 GPx1 variant in ASD. However, given the multifactorial nature of autism, this evidence might be a piece of a more complex puzzle being the GPx1 enzyme part of a complex pathway in which several proteins are involved. En ligne : http://dx.doi.org/10.1002/aur.2655 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450
in Autism Research > 15-2 (February 2022) . - p.215-221[article] The ALA5/ALA6/ALA7 repeat polymorphisms of the glutathione peroxidase-1 (GPx1) gene and autism spectrum disorder [Texte imprimé et/ou numérique] / F. CARDUCCI, Auteur ; C. ARDICCIONI, Auteur ; R. FIORINI, Auteur ; A. VIGNINI, Auteur ; A. DI PAOLO, Auteur ; S. ALIA, Auteur ; M. BARUCCA, Auteur ; M. A. BISCOTTI, Auteur . - p.215-221.
Langues : Anglais (eng)
in Autism Research > 15-2 (February 2022) . - p.215-221
Mots-clés : Asd GPx1 genetic screening GPx1 in vitro protein production GPx1 polymorphisms GPx1 protein activity autism spectrum disorder glutathione peroxidase 1 Index. décimale : PER Périodiques Résumé : Autism is a severe neurodevelopmental disorder leading to deficits in social interaction, communication, and several activities. An increasing number of evidence suggests a role of oxidative stress in the etiology of autism spectrum disorder (ASD). Indeed, impaired antioxidant mechanisms may lead to the inadequate removal of H(2) O(2) with a consequent increase in highly active hydroxyl radicals and other reactive oxygen species causing cellular damages. The GPx1 is one of the most important enzymes counteracting oxidative stress. In this work, we investigated a possible correlation between the GCG repeat polymorphism present in the first exon of GPx1 gene encoding a tract of five to seven alanine residues (ALA5, ALA6, and ALA7) and ASD. Our findings highlighted a high frequency of ALA5 allele in ASD subjects. Moreover, proteins corresponding to the three GPx1 variants were produced in vitro, and the evaluation of their activity showed a lower values for GPx1 having ALA5 polymorphism. The comparison of the secondary and tertiary structure predictions revealed an alpha-helix in correspondence of alanine stretch only in the case of GPx1-ALA7 variant. Finally, to better investigate protein structure, steady-state fluorescence measurements of GPx1 intrinsic tryptophan were carried out and the three tested proteins exhibited a different stability under denaturing conditions. This work demonstrates the importance in adopting a multidisciplinary strategy to comprehend the role of GPx1 in ASD. LAY SUMMARY: Results here obtained suggest a possible role of ALA5 GPx1 variant in ASD. However, given the multifactorial nature of autism, this evidence might be a piece of a more complex puzzle being the GPx1 enzyme part of a complex pathway in which several proteins are involved. En ligne : http://dx.doi.org/10.1002/aur.2655 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450