Decreased serum arylesterase activity in autism spectrum disorders

Laura Gaita, Barbara Manzi, Roberto Sacco, Carla Lintas, Laura Altieri, Federica Lombardi, Tracy L. Pawlowski, Margot Redman, David W. Craig, Matthew J. Huentelman, Sharman Ober-Reynolds, Sarah Brautigam, Raun Melmed, Christopher J. Smith, Judith Marsillach, Jordi Camps, Paolo Curatolo, Antonio M. Persico

Research output: Contribution to journalArticlepeer-review


The PON1 gene, previously found associated with autism spectrum disorders (ASDs), encodes a serum protein responsible for the detoxification of organophosphates (OPs) and able to exert several enzymatic activities. PON1 arylesterase, but not diazoxonase activity, was significantly decreased in 174 ASD patients compared to 175 first-degree relatives and 144 controls (P=2.65×10-16). First degree relatives displayed intermediate activities, closer to patient than to control levels. Differences between patients, first-degree relatives and controls were especially evident among 164 Italians compared to 329 Caucasian-Americans, because arylesterase activity was significantly higher in Italian controls, compared to Caucasian-American controls (P=2.84×10-16). Arylesterase activity and PON protein concentrations were not significantly correlated, supporting a functional inhibition of arylesterase activity in ASD patients over quantitative changes in protein amounts. Serum arylesterase activity, in combination with PON1 genotypes at two single nucleotide polymorphisms (SNPs) known to influence protein amounts (rs705379: C-108T) and substrate specificity (rs662: Q192R), was able to discriminate ASD patients from controls with elevated sensitivity and specificity, depending on genotype and ethnic group. Serum arylesterase activity and genotyping at these two SNPs could thus represent an informative biochemical/genetic test, able to aid clinicians in estimating autism risk in ethnic groups with higher baseline arylesterase activity levels.

Original languageEnglish
Pages (from-to)105-113
Number of pages9
JournalPsychiatry Research
Issue number2-3
Publication statusPublished - Dec 30 2010


  • Autistic disorder
  • Diazoxonase
  • Immune
  • Organophosphate
  • Paraoxonase
  • Pervasive developmental disorders

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Biological Psychiatry


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