Paraoxonase 1 activities and polymorphisms in autism spectrum disorders

Sergiu P. Paşca, Eleonora Dronca, Bogdan Nemeş, Tamás Kaucsár, E. Endreffy, Felicia Iftene, Ileana Benga, Rodica Cornean, Maria Dronca

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Autism spectrum disorders (ASD) comprise a complex and heterogeneous group of conditions of unknown aetiology, characterized by significant disturbances in social, communicative and behavioural functioning. Recent studies suggested a possible implication of the high-density lipoprotein associated esterase/lactonase paraoxonase 1 (PON1) in ASD. In the present study, we aimed at investigating the PON1 status in a group of 50 children with ASD as compared to healthy age and sex matched control participants. We evaluated PON1 bioavailability (i.e. arylesterase activity) and catalytic activity (i.e. paraoxonase activity) in plasma using spectrophotometric methods and the two common polymorphisms in the PON1 coding region (Q192R, L55M) by employing Light Cycler real-time PCR. We found that both PON1 arylesterase and PON1 paraoxonase activities were decreased in autistic patients (respectively, P <0.001, P <0.05), but no association with less active variants of the PON1 gene was found. The PON1 phenotype, inferred from the two-dimensional enzyme analysis, had a similar distribution in the ASD group and the control group. In conclusion, both the bioavailability and the catalytic activity of PON1 are impaired in ASD, despite no association with the Q192R and L55M polymorphisms in the PON1 gene and a normal distribution of the PON1 phenotype.

Original languageEnglish
Pages (from-to)600-607
Number of pages8
JournalJournal of Cellular and Molecular Medicine
Volume14
Issue number3
DOIs
Publication statusPublished - Mar 2010

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Aryldialkylphosphatase
Autism Spectrum Disorder
Biological Availability
Phenotype
Normal Distribution
Esterases
HDL Lipoproteins
Genes
Real-Time Polymerase Chain Reaction

Keywords

  • Arylesterase
  • Autism
  • Paraoxonase
  • Polymorphisms

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Medicine

Cite this

Paraoxonase 1 activities and polymorphisms in autism spectrum disorders. / Paşca, Sergiu P.; Dronca, Eleonora; Nemeş, Bogdan; Kaucsár, Tamás; Endreffy, E.; Iftene, Felicia; Benga, Ileana; Cornean, Rodica; Dronca, Maria.

In: Journal of Cellular and Molecular Medicine, Vol. 14, No. 3, 03.2010, p. 600-607.

Research output: Contribution to journalArticle

Paşca, SP, Dronca, E, Nemeş, B, Kaucsár, T, Endreffy, E, Iftene, F, Benga, I, Cornean, R & Dronca, M 2010, 'Paraoxonase 1 activities and polymorphisms in autism spectrum disorders', Journal of Cellular and Molecular Medicine, vol. 14, no. 3, pp. 600-607. https://doi.org/10.1111/j.1582-4934.2008.00414.x
Paşca, Sergiu P. ; Dronca, Eleonora ; Nemeş, Bogdan ; Kaucsár, Tamás ; Endreffy, E. ; Iftene, Felicia ; Benga, Ileana ; Cornean, Rodica ; Dronca, Maria. / Paraoxonase 1 activities and polymorphisms in autism spectrum disorders. In: Journal of Cellular and Molecular Medicine. 2010 ; Vol. 14, No. 3. pp. 600-607.
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