Autism Disorder Risk Increased in Babies of Mothers with Glutathione S-Transferase P1 Haplotype

George H. Lambert, M.D., William Johnson, M.D., and Audrey E. Mars, M.D.
UMDNJ
P01ES009589 and P01ES011256

Grantees from the NIEHS-supported Center for Childhood Neurotoxicology and Exposure Assessment at the University of Medicine and Dentistry of New Jersey have found a positive correlation between a diagnosis of autism in children and a polymorphism in a gene coding for the enzyme glutathione S-transferase (GST) in their mothers. This finding suggests that autism may be the result of a gene-environment interaction and suggests a possible mechanism for the design of strategies for prevention and treatment.

The researchers determined the frequency of glutathione polymorphisms in 137 members of 49 families with histories of autism disorder. Autism was confirmed using two common diagnostic screening methods. They found that the autism case mothers were 2.7 times more likely to carry the GSTP1*A haplotype. GSTs are active in the detoxification of endogenous compounds such as peroxidized lipids as well as the metabolism of xenobiotics.

If confirmed by additional studies, this finding represents a major step in determining whether autism disorders are the result of gene-environment interactions. It also raises questions as to whether the effect is the result of conjugation of glutathione with toxins. These results may provide insight into the toxins that might cause the effect and could lead to the therapeutic or preventive strategies for autism disorders.

Citation: Williams TA, Mars AE, Buyske SG, Stenroos ES, Wang R, Factura-Santiago MF, Lambert GH, Johnson WG. Risk of autistic disorder in affected offspring of mothers with a glutathione S-transferase P1 haplotype. Arch Pediatr Adolesc Med. 2007 Apr;161(4):356-61.