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Auteur Edmund C. JENKINS |
Documents disponibles écrits par cet auteur (2)
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Glyoxalase I polymorphism rs2736654 causing the Ala111Glu substitution modulates enzyme activity—implications for autism / Madhabi BARUA in Autism Research, 4-4 (August 2011)
[article]
Titre : Glyoxalase I polymorphism rs2736654 causing the Ala111Glu substitution modulates enzyme activity—implications for autism Type de document : Texte imprimé et/ou numérique Auteurs : Madhabi BARUA, Auteur ; Edmund C. JENKINS, Auteur ; Wenqiang CHEN, Auteur ; Salomon KUIZON, Auteur ; Raju K. PULLARKAT, Auteur ; Mohammed A. JUNAID, Auteur Année de publication : 2011 Article en page(s) : p.262-270 Langues : Anglais (eng) Mots-clés : autism glyoxalase I SNP advanced glycation endproducts (AGEs) receptor for advanced glycation end products (RAGEs) methylglyoxal Index. décimale : PER Périodiques Résumé : Autism is a pervasive, heterogeneous, neurodevelopmental disability characterized by impairments in verbal communications, reciprocal social interactions, and restricted repetitive stereotyped behaviors. Evidence suggests the involvement of multiple genetic factors in the etiology of autism, and extensive genome-wide association studies have revealed several candidate genes that bear single nucleotide polymorphisms (SNPs) in non-coding and coding regions. We have shown that a non-conservative, non-synonymous SNP in the glyoxalase I gene, GLOI, may be an autism susceptibility factor. The GLOI rs2736654 SNP is a C→A change that causes an Ala111Glu change in the Glo1 enzyme. To identify the significance of the SNP, we have conducted functional assays for Glo1. We now present evidence that the presence of the A-allele at rs2736654 results in reduced enzyme activity. Glo1 activity is decreased in lymphoblastoid cells that are homozygous for the A allele. The Glu-isoform of Glo1 in these cells is hyperphosphorylated. Direct HPLC measurements of the glyoxalase I substrate, methylglyoxal (MG), show an increase in MG in these cells. Western blot analysis revealed elevated levels of the receptor for advanced glycation end products (RAGEs). We also show that MG is toxic to the developing neuronal cells. We suggest that accumulation of MG results in the formation of AGEs, which induce expression of the RAGE that during crucial neuronal development may be a factor in the pathology of autism. En ligne : http://dx.doi.org/10.1002/aur.197 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=141
in Autism Research > 4-4 (August 2011) . - p.262-270[article] Glyoxalase I polymorphism rs2736654 causing the Ala111Glu substitution modulates enzyme activity—implications for autism [Texte imprimé et/ou numérique] / Madhabi BARUA, Auteur ; Edmund C. JENKINS, Auteur ; Wenqiang CHEN, Auteur ; Salomon KUIZON, Auteur ; Raju K. PULLARKAT, Auteur ; Mohammed A. JUNAID, Auteur . - 2011 . - p.262-270.
Langues : Anglais (eng)
in Autism Research > 4-4 (August 2011) . - p.262-270
Mots-clés : autism glyoxalase I SNP advanced glycation endproducts (AGEs) receptor for advanced glycation end products (RAGEs) methylglyoxal Index. décimale : PER Périodiques Résumé : Autism is a pervasive, heterogeneous, neurodevelopmental disability characterized by impairments in verbal communications, reciprocal social interactions, and restricted repetitive stereotyped behaviors. Evidence suggests the involvement of multiple genetic factors in the etiology of autism, and extensive genome-wide association studies have revealed several candidate genes that bear single nucleotide polymorphisms (SNPs) in non-coding and coding regions. We have shown that a non-conservative, non-synonymous SNP in the glyoxalase I gene, GLOI, may be an autism susceptibility factor. The GLOI rs2736654 SNP is a C→A change that causes an Ala111Glu change in the Glo1 enzyme. To identify the significance of the SNP, we have conducted functional assays for Glo1. We now present evidence that the presence of the A-allele at rs2736654 results in reduced enzyme activity. Glo1 activity is decreased in lymphoblastoid cells that are homozygous for the A allele. The Glu-isoform of Glo1 in these cells is hyperphosphorylated. Direct HPLC measurements of the glyoxalase I substrate, methylglyoxal (MG), show an increase in MG in these cells. Western blot analysis revealed elevated levels of the receptor for advanced glycation end products (RAGEs). We also show that MG is toxic to the developing neuronal cells. We suggest that accumulation of MG results in the formation of AGEs, which induce expression of the RAGE that during crucial neuronal development may be a factor in the pathology of autism. En ligne : http://dx.doi.org/10.1002/aur.197 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=141 Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families / Xudong LIU in Journal of Autism and Developmental Disorders, 41-7 (July 2011)
[article]
Titre : Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families Type de document : Texte imprimé et/ou numérique Auteurs : Xudong LIU, Auteur ; Fatima SOLEHDIN, Auteur ; Ira L. COHEN, Auteur ; Maripaz G. GONZALEZ, Auteur ; Edmund C. JENKINS, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur Année de publication : 2011 Article en page(s) : p.938-944 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders (ASDs) Gene association Methylenetetrahydrofolate reductase (MTHFR) Functional polymorphism Epigenetics Methylation Index. décimale : PER Périodiques Résumé : Two methylenetetrahydrofolate reductase gene (MTHFR) functional polymorphisms were studied in 205 North American simplex (SPX) and 307 multiplex (MPX) families having one or more children with an autism spectrum disorder. Case–control comparisons revealed a significantly higher frequency of the low-activity 677T allele, higher prevalence of the 677TT genotype and higher frequencies of the 677T-1298A haplotype and double homozygous 677TT/1298AA genotype in affected individuals relative to controls. Family-based association testing demonstrated significant preferential transmission of the 677T and 1298A alleles and the 677T-1298A haplotype to affected offspring. The results were not replicated in MPX families. The results associate the MTHFR gene with autism in SPX families only, suggesting that reduced MTHFR activity is a risk factor for autism in these families. En ligne : http://dx.doi.org/10.1007/s10803-010-1120-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=130
in Journal of Autism and Developmental Disorders > 41-7 (July 2011) . - p.938-944[article] Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families [Texte imprimé et/ou numérique] / Xudong LIU, Auteur ; Fatima SOLEHDIN, Auteur ; Ira L. COHEN, Auteur ; Maripaz G. GONZALEZ, Auteur ; Edmund C. JENKINS, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur . - 2011 . - p.938-944.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 41-7 (July 2011) . - p.938-944
Mots-clés : Autism spectrum disorders (ASDs) Gene association Methylenetetrahydrofolate reductase (MTHFR) Functional polymorphism Epigenetics Methylation Index. décimale : PER Périodiques Résumé : Two methylenetetrahydrofolate reductase gene (MTHFR) functional polymorphisms were studied in 205 North American simplex (SPX) and 307 multiplex (MPX) families having one or more children with an autism spectrum disorder. Case–control comparisons revealed a significantly higher frequency of the low-activity 677T allele, higher prevalence of the 677TT genotype and higher frequencies of the 677T-1298A haplotype and double homozygous 677TT/1298AA genotype in affected individuals relative to controls. Family-based association testing demonstrated significant preferential transmission of the 677T and 1298A alleles and the 677T-1298A haplotype to affected offspring. The results were not replicated in MPX families. The results associate the MTHFR gene with autism in SPX families only, suggesting that reduced MTHFR activity is a risk factor for autism in these families. En ligne : http://dx.doi.org/10.1007/s10803-010-1120-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=130