Gene × environment interactions in autism spectrum disorders

Keil-Stietz, Kimberly; Lein, Pamela J.

doi:10.1016/bs.ctdb.2022.11.001

Cited by 10 publications

(8 citation statements)

References 373 publications

(551 reference statements)

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“…The effects of xenobiotic exposure and its role in autism are rapidly evolving, and gene/environment interactions are now considered a rich area of research [ 62 , 63 , 64 ]. This is particularly relevant given the report by Carter and Blizard [ 7 ], who report that autism genes are selectively targeted by environmental pollutants, including pesticides and phthalates found in food, cosmetics, or household products.…”

Section: Discussionmentioning

confidence: 99%

An Exploratory Investigation of Organic Chemicals Detected in Baby Teeth: Differences in Children with and without Autism

Palmer

2024

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Autism spectrum disorder (ASD) is a behaviorally defined neurodevelopmental disorder characterized by deficits in language, communication, and social function with an estimated prevalence rate of between 1 in 30 and 44 U.S. births. Gene/environment (G × E) interactions are widely regarded as the most probable explanation for idiopathic ASD, especially because some genes are selectively targeted by various environmental xenobiotics. Because deciduous teeth are a likely biomarker of in utero exposure, the present study investigated if the quantity of chemicals found in deciduous teeth differs between children with and without ASD. Twenty-two deciduous teeth from children with ASD and 20 teeth from typically developed children were prepared and analyzed using THE Two-Dimensional Gas Chromatography Time-of-Flight Mass Spectrometer (GC × GC-TOF MS) with ChromaTOF version 23H2 software and Agilent 7890 gas chromatograph. The autism sample had significantly more chemicals in their teeth than the typical developing sample (99.4 vs. 80.7, respectively) (p < 0.0001). The majority of chemicals were identified as phthalates, plasticizers, pesticides, preservatives, or intermediary solvents used in the production of fragranced personal care or cleaning products or flavoring agents in foods. The known toxic analytes reported in this study are likely biomarkers of developmental exposure. Why there were greater concentrations of toxic chemicals in the teeth that came from children with ASD is unclear. A further understanding of the cavalcade of multiple biological system interactions (Interactome) could help with future efforts to reduce risks. Notwithstanding, the avoidance of pesticides, plastics, and scented personal care products may be warranted under the precautionary principle rule.

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Section: Discussionmentioning

confidence: 99%

An Exploratory Investigation of Organic Chemicals Detected in Baby Teeth: Differences in Children with and without Autism

Palmer

2024

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“…The interface between the emerging genomic and exposomic sciences presents various methodological challenges for researchers in terms of understanding the complex interactions between an individual’s biology and multiple environmental exposures [ 6 ]. Currently, Gene/Environment (GxE) interactions are widely regarded as the most probable explanation for most autism cases, especially given the fact that genes are selectively targeted by diverse xenobiotics [ 6 , 7 , 8 , 9 ]. These observations suggest the need for improved genetic screening and public health strategies in order to reduce toxic exposures.…”

Section: Introductionmentioning

confidence: 99%

Assessing Chemical Intolerance in Parents Predicts the Risk of Autism and ADHD in Their Children

Palmer,

Kattari,

Rincon

et al. 2024

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Background: We sought to replicate our 2015 findings linking chemical intolerance in parents with the risk of their children developing autism and/or ADHD. Drawing upon our 2021 discovery of a strong association between chemical intolerance and mast cells, we propose an explanation for this link. Methods: In a population-based survey of U.S. adults, we used the internationally validated Quick Environmental Exposure and Sensitivity Inventory (QEESI) to assess symptom severity and chemical intolerance. Parents were asked how many of their biological children had been diagnosed with autism and/or ADHD. Results: Parents with chemical intolerance scores in the top versus bottom tenth percentile had 5.7 times the risk of reporting a child with autism and 2.1 times for ADHD. Conclusions: High chemical intolerance scores among parents of children with autism, coupled with our 2021 discovery of mast cell activation as a plausible biomechanism for chemical intolerance, suggest that (1) the QEESI can identify individuals at increased risk, (2) environmental counseling may reduce personal exposures and risk, and (3) the global rise in autism and ADHD may be due to fossil-fuel-derived and biogenic toxicants epigenetically “turning on” or “turning off” critical mast cell genes that can be transmitted transgenerationally. It is important to note that this study was observational in nature; as such, further research is needed using controlled trials to confirm causality and explore the proposed mechanism.

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“…Epidemiological studies emphasize the significance of genetic factors, revealing that autistic disorder ranks among the most genetically influenced neuropsychiatric conditions [6]. While candidate genes implicated in autism primarily involve proteins that regulate neuronal network patterning and the balance between excitatory and inhibitory signaling, ASD is highly polygenic, with no specific gene or locus associated with a large group of patients [6][7][8]. Approximately 20% of patients exhibit genetic mutations affecting known major genes, contributing to the complexity of clinical manifestations and etiology, without a specific biological hallmark identified for this disorder [2].…”

Section: Introductionmentioning

confidence: 99%

“…Approximately 20% of patients exhibit genetic mutations affecting known major genes, contributing to the complexity of clinical manifestations and etiology, without a specific biological hallmark identified for this disorder [2]. In addition to the genetic factors, multiple environmental factors have been related to the development of ASD [1,3,6,7].…”

Section: Introductionmentioning

confidence: 99%

Short- and Long-Term Neurobehavioral Effects of the Developmental Exposure to Valproic Acid in Zebrafish

Ricarte,

Tagkalidou,

Bellot

et al. 2024

Preprint

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Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction and communication, anxiety, hyperactivity, and restricted interest for specific subjects. In addition to the genetic factors, multiple environmental factors have been related to the development of ASD. Animal models can serve as crucial tools for understanding the complexity of ASD and identifying potential therapeutic strategies. In this study, a chemical model of ASD has been developed in zebrafish by exposing embryos to valproic acid (VPA) from 4 to 48 hours post-fertilization. After the exposure, embryos were transferred to fish water and the effects on behavior and neurotransmitters profile were analyzed at both larval and adult stages. Larvae from VPA-treated embryos showed hyperactivity and decreased visual and vibrational escape responses, as well as an altered neurotransmitters profile, with increased glutamate and decreased acetylcholine and norepinephrine levels. Adults from VPA-treated embryos exhibited impaired social behavior characterized by larger shoal sizes and a decreased interest for their conspecifics. Neurotransmitter analysis revealed a significant decrease in dopamine and GABA levels in the brain. These results support the interest of this model in the study of ASD.

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Gene × environment interactions in autism spectrum disorders

Cited by 10 publications

References 373 publications

An Exploratory Investigation of Organic Chemicals Detected in Baby Teeth: Differences in Children with and without Autism

An Exploratory Investigation of Organic Chemicals Detected in Baby Teeth: Differences in Children with and without Autism

Assessing Chemical Intolerance in Parents Predicts the Risk of Autism and ADHD in Their Children

Short- and Long-Term Neurobehavioral Effects of the Developmental Exposure to Valproic Acid in Zebrafish

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