title: Paraoxonase 1 activities and polymorphisms in autism spectrum disorders.
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.
authors.affiliation: Department of Medical Biochemistry, Faculty of Medicine, Iuliu HaTieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
authors.forename: Sergiu P
authors.initials: SP
authors.lastname: Paşca
authors.forename: Eleonora
authors.initials: E
authors.lastname: Dronca
authors.forename: Bogdan
authors.initials: B
authors.lastname: Nemeş
authors.forename: Tamás
authors.initials: T
authors.lastname: Kaucsár
authors.forename: Emõke
authors.initials: E
authors.lastname: Endreffy
authors.forename: Felicia
authors.initials: F
authors.lastname: Iftene
authors.forename: Ileana
authors.initials: I
authors.lastname: Benga
authors.forename: Rodica
authors.initials: R
authors.lastname: Cornean
authors.forename: Maria
authors.initials: M
authors.lastname: Dronca
mesh_terms: D043303:Aryldialkylphosphatase / Q000097:blood / Q000235:genetics* / Q000378:metabolism*; D001321:Autistic Disorder / Q000201:enzymology* / Q000235:genetics; D002648:Child; D057075:Enzyme Assays; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D011110:Polymorphism, Genetic
chemical_list: D043303:Aryldialkylphosphatase; C468406:PON1 protein, human