Determination of modified nucleosides in the urine of children with autism spectrum disorder

Joško Osredkar; Kristina Kumer; Teja Fabjan; Maja Jekovec Vrhovšek; Jerneja Maček; Mojca Zupan; Barbara Bobrowska-Korczak; Paulina Gątarek; Angelina Rosiak; Joanna Giebułtowicz; Geir Bjørklund; Salvatore Chirumbolo; Joanna Kałużna-Czaplińska

doi:10.18388/abp.2020_6569

Joško Osredkar Institute of Clinical Chemistry and Biochemistry, University Medical Center Ljubljana, Ljubljana, Slovenia; Faculty of Pharmacy, University of Ljubljana, Ljubljana, Slovenia
Kristina Kumer Institute of Clinical Chemistry and Biochemistry, University Medical Center Ljubljana, Ljubljana, Slovenia
Teja Fabjan Institute of Clinical Chemistry and Biochemistry, University Medical Center Ljubljana, Ljubljana, Slovenia
Maja Jekovec Vrhovšek Center for Autism, Unit of Child Psychiatry, University Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
Jerneja Maček Center for Autism, Unit of Child Psychiatry, University Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
Mojca Zupan Blood Transfusion Centre of Slovenia, Ljubljana, Slovenia
Barbara Bobrowska-Korczak Department of Bromatology, Faculty of Pharmacy with the Laboratory Medicine Division, Medical University of Warsaw, Warsaw, Poland
Paulina Gątarek Institute of General and Ecological Chemistry, Faculty of Chemistry, Lodz University of Technology, Lodz, Poland; CONEM Poland Chemistry and Nutrition Research Group, Lodz University of Technology, Lodz, Poland
Angelina Rosiak Institute of General and Ecological Chemistry, Faculty of Chemistry, Lodz University of Technology, Lodz, Poland; CONEM Poland Chemistry and Nutrition Research Group, Lodz University of Technology, Lodz, Poland https://orcid.org/0000-0002-1072-5502
Joanna Giebułtowicz Department of Bioanalysis and Drug Analysis, Faculty of Pharmacy with the Laboratory Medicine Division, Medical University of Warsaw, Warsaw, Poland
Geir Bjørklund Council for Nutritional and Environmental Medicine (CONEM), Mo i Rana, Norway
Salvatore Chirumbolo Department of Neurological and Movement Science, University of Verona, Verona, Italy
Joanna Kałużna-Czaplińska Institute of General and Ecological Chemistry, Faculty of Chemistry, Lodz University of Technology, Lodz, Poland; CONEM Poland Chemistry and Nutrition Research Group, Lodz University of Technology, Lodz, Poland

DOI: https://doi.org/10.18388/abp.2020_6569

Abstract

Metabolic disorders and nutritional deficiencies in ASD children may be identified by the determination of urinary-modified compounds. In this study, levels of selected seven modified compounds: O-methylguanosine, 7-methylguanosine, 1-methyladenosine, 1-methylguanine, 7-methylguanine, 3-methyladenine, and 8-hydroxy-2`-deoxyguanosine in the group of 143 ASD children and 68 neurotypical controls were analyzed. An ancillary aim was to verify if the reported levels differed depending on the pathogenetic scoring of ASD (mild deficit, moderate deficit, severe deficit). Elevated O-methylguanosine and 7-methylguanosine levels and significantly lower levels of 3-methyladenine, 1-methylguanine, 1-methyladenosine, 7-methylguanine, and 8-hydroxy-’2’-deoxyguanosine were observed in ASD children compared to controls. O-methylguanosine levels were elevated in the mild and moderate groups, while the levels of 1-methylguanine, 1-methyladenosine, 7-methylguanine, and 8-hydroxy-’2’-deoxyguanosine in the same groups were lower than in neurotypical controls. The reported evidence shows that modified nucleosides/bases can play a potential role in the pathophysiology of ASD and that each nucleoside/base shows a unique pattern depending on the degree of the deficit.