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

神经质的 尿 核苷 脱氧鸟苷 泌尿系统 甲基化 化学 自闭症谱系障碍 自闭症 内科学 医学 生物化学 DNA 精神科
作者
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
出处
期刊:Acta Biochimica Polonica [Polish Biochemical Society]
标识
DOI:10.18388/abp.2020_6569
摘要

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.

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