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Environmental risk factors for autism

 

 



Med Hypotheses. 2010 Jan;74(1):102-6. Epub 2009 Aug 21.



Environmental risk factors for autism: do they help cause de novo genetic mutations that contribute to the disorder?

Kinney DK, Barch DH, Chayka B, Napoleon S, Munir KM. Genetics Laboratory, McLean Hospital, 115 Mill St, Belmont, MA 02478, USA. This email address is being protected from spambots. You need JavaScript enabled to view it.
 


Recent research has discovered that a number of genetic risk factors for autism are de novo mutations. Advanced parental age at the time of conception is associated with increased risk for both autism and de novo mutations. We investigated the hypothesis that other environmental factors associated with increased risk for autism might also be mutagenic and contribute to autism by causing de novo mutations. A survey of the research literature identified 9 environmental factors for which increased pre-conceptual exposure appears to be associated with increased risk for autism. Five of these factors--mercury, cadmium, nickel, trichloroethylene, and vinyl chloride--are established mutagens. Another four--including residence in regions that are urbanized, located at higher latitudes, or experience high levels of precipitation--are associated with decreased sun exposure and increased risk for vitamin D deficiency. Vitamin D plays important roles in repairing DNA damage and protecting against oxidative stress--a key cause of DNA damage. Factors associated with vitamin D deficiency will thus contribute to higher mutation rates and impaired repair of DNA. We note how de novo mutations may also help explain why the concordance rate for autism is so markedly higher in monozygotic than dizygotic twins. De novo mutations may also explain in part why the prevalence of autism is so remarkably high, given the evidence for a strong role of genetic factors and the low fertility of individuals with autism--and resultant selection pressure against autism susceptibility genes. These several lines of evidence provide support for the hypothesis, and warrant new research approaches--which we suggest--to address limitations in existing studies. The hypothesis has implications for understanding possible etiologic roles of de novo mutations in autism, and it suggests possible approaches to primary prevention of the disorder, such as addressing widespread vitamin D deficiency and exposure to known mutagens.


PMID: 19699591 [PubMed - in process]

 


 

 

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  • First, for those without a biochemistry degree, 'de novo' is latin for 'from the beginning' or 'new creation'. In the context of this study it is referring to a genetic mutation that neither parent possessed nor transmitted to their child i.e. the mutation occurred in the child after birth.

    This study is interesting as it ties together various factors that could account for de novo genetic mutations that lead to a child becoming autistic - parental age, environmental toxins and vitamin D deficiency lowering the capacity for DNA repair. I for one would like to see this theory put to the test empirically.

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