Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neuroligins are postsynaptic cell adhesion proteins that bind specifically to presynaptic membrane proteins called neurexins. Mutations in human neuroligin genes are associated with autism spectrum disorders in some families. The nematode Caenorhabditis elegans has a single neuroligin gene (nlg-1), and approximately a sixth of C. elegans neurons, including some sensory neurons, interneurons and a subset of cholinergic motor neurons, express a neuroligin transcriptional reporter. Neuroligin-deficient mutants of C. elegans are viable, and they do not appear deficient in any major motor functions. However, neuroligin mutants are defective in a subset of sensory behaviors and sensory processing, and are hypersensitive to oxidative stress and mercury compounds; the behavioral deficits are strikingly similar to traits frequently associated with autism spectrum disorders. Our results suggest a possible link between genetic defects in synapse formation or function, and sensitivity to environmental factors in the development of autism spectrum disorders.
 ...
PMID:Neuroligin-deficient mutants of C. elegans have sensory processing deficits and are hypersensitive to oxidative stress and mercury toxicity. 2069 78

The study purpose was to compare the quantitative results from tests for urinary porphyrins, where some of these porphyrins are known biomarkers of heavy metal toxicity, to the independent assessments from a recognized quantitative measurement, the Autism Treatment Evaluation Checklist (ATEC), of specific domains of autistic disorders symptoms (Speech/Language, Sociability, Sensory/Cognitive Awareness, and Health/Physical/Behavior) in a group of children having a clinical diagnosis of autism spectrum disorder (ASD). After a Childhood Autism Rating Scale (CARS) evaluation to assess the development of each child in this study and aid in confirming their classification, and an ATEC was completed by a parent, a urinary porphyrin profile sample was collected and sent out for blinded analysis. Urinary porphyrins from twenty-four children, 2-13 years of age, diagnosed with autism or PDD-NOS were compared to their ATEC scores as well as their scores in the specific domains (Speech/Language, Sociability, Sensory/Cognitive Awareness, and Health/Physical/Behavior) assessed by ATEC. Their urinary porphyrin samples were evaluated at Laboratoire Philippe Auguste (which is an ISO-approved clinical laboratory). The results of the study indicated that the participants' overall ATEC scores and their scores on each of the ATEC subscales (Speech/Language, Sociability, Sensory/Cognitive Awareness, and Health/Physical/Behavior) were linearly related to urinary porphyrins associated with mercury toxicity. The results show an association between the apparent level of mercury toxicity as measured by recognized urinary porphyrin biomarkers of mercury toxicity and the magnitude of the specific hallmark features of autism as assessed by ATEC.
 ...
PMID:A biomarker of mercury body-burden correlated with diagnostic domain specific clinical symptoms of autism spectrum disorder. 2053 57

Autism is a multi-factorial pathology observed in children with altered levels of essential and elevated levels of toxic elements. There are also studies reporting a decrease in nutritional trace elements in the hair and nail of autistic children with healthy controls; moreover, bioelements have been shown to play an important role in the central nervous system. Therefore, the purpose of the present study was to assess the levels of trace elements like copper (Cu), zinc (Zn), magnesium (Mg), and selenium (Se) and toxic elements like mercury (Hg), and lead (Pb) in the hair and nail samples of autistic children and to evaluate whether the level of these elements could be correlated with the severity of autism. The subjects of the study were 45 autistic children with different grades of severity (low (LFA), medium (MFA), and high (HFA) functioning autism) according to Childhood Autism Rating Scale, n = 15 children in each group and 50 healthy children (age and sex matched). The boys and girls ratio involved in this study was 4:1, and they were 4-12 years of age. The study observed a valid indication of Cu body burden in the autistic children. The children with different grades of autism showed high significance (p < 0.001) in the level of copper in their hair and nail samples when compared to healthy controls. The level of Cu in the autistic children could be correlated with their degree of severity (more the Cu burden severe is autism). The study showed a significant elevation (p < 0.001) in the levels of toxic metals Pb and Hg in both hair and nail samples of autistic children when compared to healthy control group. The elevation was much pronounced in LFA group subjects when compared among autistic groups MFA and HFA. The levels of trace elements Mg and Se were significantly decreased (p < 0.001) in autistic children when compared to control. The trace element Zn showed significant variation in both hair and nails of LFA group children when compared to control group and other study groups. The significant elevation in the concentration of Cu, Pb, and Hg and significant decrease in the concentration of Mg and Se observed in the hair and nail samples of autistic subjects could be well correlated with their degrees of severity.
 ...
PMID:Level of trace elements (copper, zinc, magnesium and selenium) and toxic elements (lead and mercury) in the hair and nail of children with autism. 2062 37

Mercury (Hg) may significantly impact the pathogenesis of autism spectrum disorders (ASDs). Lab results generated by Vitamin Diagnostics (CLIA-approved) from 2003-2007, were examined among subjects diagnosed with an ASD (n=83) in comparison to neurotypical controls (n=89). Blood Hg levels were determined by analyzing Hg content in red blood cells (RBC) using cold vapor analysis, and consistent Hg measurements were observed between Vitamin Diagnostics and the University of Rochester. Adjusted (age, gender, and date of collection) mean Hg levels were 1.9-fold significantly (P<.0001) increased among subjects diagnosed with an ASD (21.4 microg/L) in comparison to controls (11.4 microg/L). Further, an adjusted significant (P<.0005) threshold effect >15 microg/L) was observed for Hg levels on the risk of a subject being diagnosed with an ASD in comparison to controls (odds ratio=6.4). The weight of scientific evidence supports Hg as a causal factor in subjects diagnosed with an ASD.
 ...
PMID:Blood mercury levels in autism spectrum disorder: Is there a threshold level? 2062 41

This report reviews current literature regarding the association of the pharmaceutical preservative thimerosal and other mercury exposures with the risk for autism. The evidence presented here does not support a causal association between autism and mercury exposure from the preservative thimerosal. The risk for autism from other mercury exposures such as from dental amalgam restorations or environmental mercury release into the atmosphere is ambiguous. Since mercury is a known neurotoxin, more research should be done to ensure that mercury exposure from any source does not contribute to autism.
 ...
PMID:Does thimerosal or other mercury exposure increase the risk for autism? A review of current literature. 2062 42

An association between autism and early life exposure to mercury is a hotly debated issue. In this study, 91 autistic Polish children, male and female, 3-4 and 7-9 years old, were compared to 75 age- and sex-matched healthy children with respect to: demographic, perinatal, clinical and developmental measures, parental age, birth order, morphometric measures, vaccination history, and hair mercury content. In demographic and perinatal measures there were no consistent differences between the autistic and control groups. Autistic children had a significantly greater prevalence of adverse reactions after vaccinations and abnormal development than controls. Between 45 and 80% of autistic children experienced developmental regress. Autistic children significantly differed from healthy peers in the concentrations of mercury in hair: younger autistics had lower levels, while older - higher levels than their respective controls. The results suggest that autistic children differ from healthy children in metabolism of mercury, which seems to change with age.
 ...
PMID:Age-dependent lower or higher levels of hair mercury in autistic children than in healthy controls. 2062 43

Autism spectrum disorders (ASDs) also known as pervasive developmental disorders (PDD) are a behaviorally defined group of neurodevelopmental disorders that are usually diagnosed in early childhood. ASDs disproportionately affect male children. Mercury (Hg) a heavy metal, is widespread and persistent in the environment. Mercury is a ubiquitous source of danger in fish, drugs, fungicides/herbicides, dental fillings, thermometers, and many other products. Elevated Hg concentrations may remain in the brain from several years to decades following exposure. This is important because investigators have long recognized that Hg is a neurodevelopmental poison; it can cause problems in neuronal cell migration and division, and can ultimately cause cell degeneration and death. Case-reports of patients have described developmental regressions with ASD symptoms following fetal and/or early childhood Hg exposure, and epidemiological studies have linked exposure to Hg with an elevated risk of a patient being diagnosed with an ASD. Immune, sensory, neurological, motor, and behavioral dysfunctions similar to traits defining or associated with ASDs were reported following Hg intoxication with similarities extending to neuroanatomy, neurotransmitters, and biochemistry. The sexual dimorphism of ASDs may result from synergistic neurotoxicity caused by the interaction of testosterone and Hg; in contrast, estrogen is protective, mitigating the toxicity of Hg. Mercury exposure may significantly increase androgen levels, and as a result, patients diagnosed with an ASD may significantly benefit from anti-androgen therapy. Finally, the clinical geneticist has a wealth of biomarkers to evaluate and treat patients diagnosed with an ASD.
 ...
PMID:The biological basis of autism spectrum disorders: Understanding causation and treatment by clinical geneticists. 2062 44

The increased diagnoses of autism and developmental disorders in recent decades, together with the childhood vaccination program, has led to the hypothesis that vaccination in general, and the measles, mumps, and rubella virus live vaccine, and vaccines that contain mercury, in particular, cause autism. It has been hypothesized that intestinal infection caused by live virus vaccines change the permeability of the intestinal wall, and subsequently, the passage of peptides through the intestinal wall to the blood, and from there to the brain. It has been suggested that the accumulation of these peptides in the central nervous system causes autism. Studies that investigated this theory did not find an association between vaccine administration and between digestive system symptoms and autism. According to a second hypothesis, an organomercury compound (Thimerosal), used as a preservative in vaccines that do not include live viruses, is a cause of autism. Like the former, this hypothesis has been well researched, and refuted. Some studies have in fact found an increase in autism diagnosis among children who were vaccinated after Thimerosal was removed from the vaccine preparation. Recent studies have refuted the theory that the consecutive administration of vaccines weakens the young immune system in children, and leads to an autoimmune process that causes autism. The etiology of autism is still unknown, with research continuing from different directions. The extensive research conducted so far indicates that childhood vaccination is not a cause of the sharp increase in autism diagnoses in recent decades.
 ...
PMID:[Childhood vaccines and autism--much ado about nothing?]. 2081 1

Abstract Autism is a neurodevelopmental disorder characterized by impaired social interaction and restricted interests, compromised communication skills, and repetitive patterns of behavior. Both social and behavioral problems, which may include hyperactivity and quick frustration, may hinder the detection of other important pathologies such as orofacial pain. This is aggravated by the invasive nature of oral exploration, which may trigger violent and self-injurious responses, such as temper tantrums and/or head banging, which make the work of professionals extremely difficult during diagnoses, follow-up examinations, and dental treatments. In addition, mercury-containing amalgams used to treat dental caries (the most common form of acute orofacial pain) have been associated with higher rates of severe autism in children. The purpose of this review is to describe the current state of the art regarding the co-occurrence of orofacial pain and autism spectrum disorder, and how these conditions may interrelate clinically and neurobiologically.
 ...
PMID:A dental look at the autistic patient through orofacial pain. 2123 17

A cross-sectional case-control study was carried out to evaluate the concentrations of metallic elements in the hair of 44 children with diagnosis of autism and 61 age-balanced controls. Unadjusted comparisons showed higher concentrations of molybdenum, lithium and selenium in autistic children. Logistic regression analysis confirmed the role of risk factor for male gender and showed a slight association with molybdenum concentrations. Unconventional chelation and vitamin-mineral supplementation were ineffective on elemental hair concentrations. A meta-analysis including the present and previous similar studies excluded any association of autism with hair concentrations of mercury, cadmium, selenium, lithium and copper. A slight association was found for lead only, but it was very weak, as strictly dependent on the worst data from one study.
J Autism Dev Disord 2012 Mar
PMID:Lack of correlation between metallic elements analyzed in hair by ICP-MS and autism. 2150 99


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>