Newborn screening for autism: in search of candidate biomarkers

Biomark Med. 2013 Apr;7(2):247-60. doi: 10.2217/bmm.12.108.

Newborn screening for autism: in search of candidate biomarkers.

Mizejewski GJ1, Lindau-Shepard B, Pass KA.

Division of Translational Medicine, Wadsworth Center, NYS Department of Health, PO Box 509, Albany, NY 12201 0509, USA. Abstract

BACKGROUND: Autism spectrum disorder (ASD) represents a wide range of neurodevelopmental disorders characterized by impairments in social interaction, language, communication and range of interests. Autism is usually diagnosed in children 3-5 years of age using behavioral characteristics; thus, diagnosis shortly after birth would be beneficial for early initiation of treatment. AIM: This retrospective study sought to identify newborns at risk for ASD utilizing bloodspot specimens in an immunoassay. MATERIALS & METHODS: The present study utilized stored frozen specimens from ASD children already diagnosed at 15-36 months of age. The newborn specimens and controls were analyzed by immunoassay in a multiplex system that included 90 serum biomarkers and subjected to statisical analysis. RESULTS: Three sets of five biomarkers associated with ASD were found that differed from control groups. The 15 candidate biomarkers were then discussed regarding their association with ASD. CONCLUSION: This study determined that a statistically selected panel of 15 biomarkers successfully discriminated presumptive newborns at risk for ASD from those of nonaffected controls.

Excerpts:

“GST [Glutathione S-transferase] is a metabolic biomarker directly associated with ASD. The human gene product for GST constitutes a candidate susceptibility protein due to its tissue distribution and role in oxidative stress and methionine metabolism, which results in neuronal injury and death.“

“Results of a recent study further demonstrated that glutathione, total glutathione and activity levels of GST were significantly lower in autistic patients as compared with control subjects; however, homocysteine, thioredoxin reductase and perioxidoxin levels were remarkably higher.”

“Autistic children with metabolic disturbances are known to display reduced metabolic activities of GST, cysteine, glutathione and methionine, which are associated with methionine transmethylation and trans-sulfation.”