ArticleAutism research : official journal of the International Society for Autism Research2011
Glyoxalase I polymorphism rs2736654 causing the Ala111Glu substitution modulates enzyme activity--implications for autism.
Article in Autism research : official journal of the International Society for Autism Research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 51 citations in OpenAlex.
- Genetic Variants Influence the Development of Diabetic Neuropathy.International journal of molecular sciences · 2024Review
- Association betweenFrontiers in endocrinology · 2023Article
- Clinical Implications of Glyoxalase1 Gene Polymorphism and Elevated Levels of the Reactive Metabolite Methylglyoxal in the Susceptibility of Type 2 Diabetes Mellitus in the Patients from Asir and Tabuk Regions of Saudi Arabia.Journal of personalized medicine · 2022Article
- Polymorphisms in Glyoxalase I Gene Are Not Associated with Glyoxalase I Expression in Whole Blood or Markers of Methylglyoxal Stress: The CODAM Study.Antioxidants (Basel, Switzerland) · 2021Article
- Glyoxalase 1 Confers Susceptibility to Schizophrenia: From Genetic Variants to Phenotypes of Neural Function.Frontiers in molecular neuroscience · 2021Article
- Article
- Mitochondria, Metabolism, and Redox Mechanisms in Psychiatric Disorders.Antioxidants & redox signaling · 2019Review
- Article
- Neuroprotection through flavonoid: Enhancement of the glyoxalase pathway.Redox biology · 2018Review
- The Role of Glyoxalase-I (Glo-I), Advanced Glycation Endproducts (AGEs), and Their Receptor (RAGE) in Chronic Liver Disease and Hepatocellular Carcinoma (HCC).International journal of molecular sciences · 2017Review
- Flavonoid Enhances the Glyoxalase Pathway in Cerebellar Neurons to Retain Cellular Functions.Scientific reports · 2017Article
- Polymorphisms of the receptor for advanced glycation end-products and glyoxalase I in patients with renal cancer.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2015Article
- Weak association of glyoxalase 1 (GLO1) variants with autism spectrum disorder.European child & adolescent psychiatry · 2015Article
- The Pivotal Role of Aldehyde Toxicity in Autism Spectrum Disorder: The Therapeutic Potential of Micronutrient Supplementation.Nutrition and metabolic insights · 2015Article
- High-mobility group box 1 (HMGB1) in childhood: from bench to bedside.European journal of pediatrics · 2014Review
- Association of oxidative stress to the genesis of anxiety: implications for possible therapeutic interventions.Current neuropharmacology · 2014Article
- Transcriptome study of differential expression in schizophrenia.Human molecular genetics · 2013Article
- Glyoxalase 1-419C>A variant is associated with oxidative stress: implications in prostate cancer progression.PloS one · 2013Article
- Glyoxalase 1 increases anxiety by reducing GABAA receptor agonist methylglyoxal.The Journal of clinical investigation · 2012Article
- Role of advanced glycation endproducts and glyoxalase I in diabetic peripheral sensory neuropathy.Translational research : the journal of laboratory and clinical medicine · 2012Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.