ArticleAmerican journal of medical genetics. Part A2004
Proteomic studies identified a single nucleotide polymorphism in glyoxalase I as autism susceptibility factor.
Article in American journal of medical genetics. Part A, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Exploring the multifactorial nature of autism through computational systems biology: calcium and the Rho GTPase RAC1 under the spotlight.Neuromolecular medicine · 2013Pooled it
- Intact corticostriatal function in aged system xTranslational psychiatry · 2025Article
- Reduction of Glyoxalase 1 Expression Links Fetal Methylmercury Exposure to Autism Spectrum Disorder Pathogenesis.Toxics · 2024Article
- Determination of Nutrient Intake and Dietary Antioxidant Capacity in Autism Spectrum Disorder: A Case-Control Study.Journal of autism and developmental disorders · 2024Article
- Translational bioinformatics and data science for biomarker discovery in mental health: an analytical review.Briefings in bioinformatics · 2024Review
- Association betweenFrontiers in endocrinology · 2023Article
- The Human Glyoxalase Gene Family in Health and Disease.Chemical research in toxicology · 2022Review
- 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
- Transcriptome-(phospho)proteome characterization of brain of a germline model of cytoplasmic-predominant Pten expression with autism-like phenotypes.NPJ genomic medicine · 2021Article
- Paving the Way toward Personalized Medicine: Current Advances and Challenges in Multi-OMICS Approach in Autism Spectrum Disorder for Biomarkers Discovery and Patient Stratification.Journal of personalized medicine · 2021Review
- Glyoxalase 1 Confers Susceptibility to Schizophrenia: From Genetic Variants to Phenotypes of Neural Function.Frontiers in molecular neuroscience · 2021Article
- Proteomics and Metabolomics Approaches towards a Functional Insight onto AUTISM Spectrum Disorders: Phenotype Stratification and Biomarker Discovery.International journal of molecular sciences · 2020Review
- Enhanced carbonyl stress induces irreversible multimerization of CRMP2 in schizophrenia pathogenesis.Life science alliance · 2019Article
- Mitochondria, Metabolism, and Redox Mechanisms in Psychiatric Disorders.Antioxidants & redox signaling · 2019Review
- Article
- GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case-control study in a Sicilian population.Molecular biology reports · 2018Article
- 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
- Phosphatidylinositol 3,5-bisphosphate is involved in methylglyoxal-induced activation of the Mpk1 mitogen-activated protein kinase cascade inThe Journal of biological chemistry · 2017Article
- Methylglyoxal-Derived Advanced Glycation Endproducts in Multiple Sclerosis.International journal of molecular sciences · 2017Review
- Identification and Characterization of a Glyoxalase I Gene in a Rapeseed Cultivar with Seed Thermotolerance.Frontiers in plant science · 2016Article
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Authors and funding
6 authors.
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Abstract
Autism is a neurodevelopmental disability characterized by deficits in verbal communications, impairments in social interactions, and repetitive behaviors. Several studies have indicated strong involvement of multigenic components in the etiology of autism. Linkage analyses and candidate gene search approaches so far have not identified any reliable susceptibility genes. We are using a proteomic approach to identify protein abnormalities due to aberrant gene expression in autopsied autism brains. In four of eight autism brains, we have found an increase in polarity (more acidic) of glyoxalase I (Glo1) by two-dimensional gel electrophoresis. To identify the molecular change resulting in the shift of Glo1 polarity, we undertook sequencing of GLO1 gene. Direct sequencing of GLO1 gene/mRNA in these brains, has identified a single nucleotide polymorphism (SNP), C419A. The SNP causes an Ala111Glu change in the protein sequence. Population genetics of GLO1 C419A SNP studied in autism (71 samples) and normal and neurological controls (49 samples) showed significantly higher frequency for the A419 (allele frequency 0.6 in autism and 0.4 in controls, one-tailed Fisher's test P < 0.0079). Biochemical measurements have revealed a 38% decrease in Glo1 enzyme activity in autism brains (one-tailed t-test P < 0.026). Western blot analysis has also shown accumulation of advanced glycation end products (AGE's) in autism brains. These data suggest that homozygosity for A419 GLO1 resulting in Glu111 is a predisposing factor in the etiology of autism.
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