Folate receptor autoantibodies are prevalent in children diagnosed with autism spectrum disorder, their normal siblings and parents / V. QUADROS EDWARD in Autism Research, 11-5 (May 2018)  

Public ISBD [article]  inAutism Research > 11-5 (May 2018) . - p.707-712 Titre : Folate receptor autoantibodies are prevalent in children diagnosed with autism spectrum disorder, their normal siblings and parents Type de document : texte imprimé Auteurs : V. QUADROS EDWARD, Auteur ; Jeffrey M. SEQUEIRA, Auteur ; W. Ted BROWN, Auteur ; Clifford MEVS, Auteur ; Elaine MARCHI, Auteur ; Michael J. FLORY, Auteur ; Edmund C. JENKINS, Auteur ; Milen T. VELINOV, Auteur ; Ira L. COHEN, Auteur Article en page(s) : p.707-712 Langues : Anglais (eng) Mots-clés : autism  folate receptor  autoantibodies Index. décimale : PER Périodiques Résumé : Folate deficiency can affect fetal and neonatal brain development Considering the reported association of Folate receptor alpha (FRα) autoantibodies (Abs) with autism and developmental disorders, we sought to confirm this in families of 82 children with ASD, 53 unaffected siblings, 65 fathers, and 70 mothers, along with 52 unrelated normal controls. Overall, 76% of the affected children, 75% of the unaffected siblings, 69% of fathers and 59% of mothers were positive for either blocking or binding Ab, whereas the prevalence of this Ab in the normal controls was 29%. The Ab was highly prevalent in affected families including unaffected siblings. The appearance of these antibodies may have a familial origin but the risk of developing ASD is likely influenced by other mitigating factors since some siblings who had the antibodies were not affected. The antibody response appears heritable with the blocking autoantibody in the parents and affected child increasing the risk of ASD. Autism Res 2018, 11: 707 712. ? 2018 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Folate is an essential nutrient during fetal and infant development. Autoantibodies against the folate receptor alpha can block folate transport from the mother to the fetus and to the brain in infants. Children diagnosed with autism and their immediate family members were evaluated for the prevalence of folate receptor autoantibodies. The autoantibody was highly prevalent in affected families with similar distribution in parents, normal siblings and affected children. The presence of these antibodies appears to have a familial origin and may contribute to developmental deficits when combined with other factors. En ligne : https://doi.org/10.1002/aur.1934 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=363 [article] Folate receptor autoantibodies are prevalent in children diagnosed with autism spectrum disorder, their normal siblings and parents [texte imprimé] / V. QUADROS EDWARD, Auteur ; Jeffrey M. SEQUEIRA, Auteur ; W. Ted BROWN, Auteur ; Clifford MEVS, Auteur ; Elaine MARCHI, Auteur ; Michael J. FLORY, Auteur ; Edmund C. JENKINS, Auteur ; Milen T. VELINOV, Auteur ; Ira L. COHEN, Auteur . - p.707-712. Langues : Anglais (eng) in Autism Research > 11-5 (May 2018) . - p.707-712 Mots-clés : autism  folate receptor  autoantibodies Index. décimale : PER Périodiques Résumé : Folate deficiency can affect fetal and neonatal brain development Considering the reported association of Folate receptor alpha (FRα) autoantibodies (Abs) with autism and developmental disorders, we sought to confirm this in families of 82 children with ASD, 53 unaffected siblings, 65 fathers, and 70 mothers, along with 52 unrelated normal controls. Overall, 76% of the affected children, 75% of the unaffected siblings, 69% of fathers and 59% of mothers were positive for either blocking or binding Ab, whereas the prevalence of this Ab in the normal controls was 29%. The Ab was highly prevalent in affected families including unaffected siblings. The appearance of these antibodies may have a familial origin but the risk of developing ASD is likely influenced by other mitigating factors since some siblings who had the antibodies were not affected. The antibody response appears heritable with the blocking autoantibody in the parents and affected child increasing the risk of ASD. Autism Res 2018, 11: 707 712. ? 2018 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Folate is an essential nutrient during fetal and infant development. Autoantibodies against the folate receptor alpha can block folate transport from the mother to the fetus and to the brain in infants. Children diagnosed with autism and their immediate family members were evaluated for the prevalence of folate receptor autoantibodies. The autoantibody was highly prevalent in affected families with similar distribution in parents, normal siblings and affected children. The presence of these antibodies appears to have a familial origin and may contribute to developmental deficits when combined with other factors. En ligne : https://doi.org/10.1002/aur.1934 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=363

Glyoxalase I polymorphism rs2736654 causing the Ala111Glu substitution modulates enzyme activity—implications for autism / Madhabi BARUA in Autism Research, 4-4 (August 2011)  

Public ISBD [article]  inAutism Research > 4-4 (August 2011) . - p.262-270 Titre : Glyoxalase I polymorphism rs2736654 causing the Ala111Glu substitution modulates enzyme activity—implications for autism Type de document : texte imprimé 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 [article] Glyoxalase I polymorphism rs2736654 causing the Ala111Glu substitution modulates enzyme activity—implications for autism [texte imprimé] / 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)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 41-7 (July 2011) . - p.938-944 Titre : Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families Type de document : texte imprimé 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 [article] Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families [texte imprimé] / 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

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