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A three-pronged analysis confirms the association of the serotoninergic system with attention deficit hyperactivity disorder

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World Journal of Pediatrics 2022年第12期18卷 825-834页

作者： Mahasweta Chatterjee Sharmistha Saha Swagata Sinha kanchan mukhopadhyay Manovikas Biomedical Research and Diagnostic Centre Manovikas Kendra482 MadudahPlot I-24Sector JEM BypassKolkataWest Bengal700107India

Background The serotonin transporter(SERT),encoded by the solute carrier family 6 number 4(SLC6A4)gene,controls serotonin(5-HT)availability and is essential for the regulation of behavioral *** SLC6A4 genetic variants,5-HTTLPR and STin2,were widely investigated in patients with various neurobehavioral disorders,including attention deficit hyperactivity disorder(ADHD).Methods We analyzed the association of the 5-HTTLPR(L/S)and STin2(10/12)variants,plasma 5-HT,and 5-hydroxyindole acetic acid(5-HIAA),as well as SERT messenger RNA(mRNA)with ADHD in the eastern Indian *** families with ADHD probands(n=274)and ethnically matched controls(n=367)were recruited following the Diagnostic and Statistical Manual of Mental *** traits,executive function,and intelligence quotient(IQ)of the probands were assessed using the Conner's Parent Rating Scale–Revised,Parental Account of Children’s Symptoms(PACS),Barkley Deficit in Executive Functioning—Child and Adolescent Scale,and Wechsler Intelligence Scale for Children-III,*** obtaining informed written consent,peripheral blood was collected to analyze genetic variants,plasma 5-HT,5-HIAA,and SERT mRNA *** ADHD probands showed a higher frequency of the 5-HTTLPR“L”allele and“L/L”genotype(P<0.05),lower 5-HIAA level,and higher SERT mRNA *** for behavioral problems and hyperactivity were higher in the presence of the“S”allele and“S/S”genotype,while executive deficit was higher in the presence of the“L”*** score was lower in the presence of the STin2“12”allele and L-12 *** Data obtained indicate a significant association of the serotoninergic system with ADHD,warranting further in-depth investigation.

关键词： Attention deficit hyperactivity disorder 5-Hydroxyindole acetic acid 5-Serotonin 5-HTT-linked polymorphic region SERT mRNA

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Analysis of neurotransmitters validates the importance of the dopaminergic system in autism spectrum disorder

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世界儿科杂志:英文版 2023年第8期19卷 770-781页

作者： Sharmistha Saha Mahasweta Chatterjee Nilanjana Dutta Swagata Sinha kanchan mukhopadhyay Manovikas Biomedical Research and Diagnostic Centre Manovikas Kendra482 MadudahPlot I-24Sector-JE.M.BypassKolkataWest Bengal700107India

Background The reasons behind the cardinal symptoms of communication deficits and repetitive,stereotyped behaviors that characterize autism spectrum disorder(ASD)remain *** dopamine(DA)system,which regulates motor activity,goal-directed behaviors,and reward function,is believed to play a crucial role in ASD,although the exact mechanism is still *** have shown an association of the dopamine receptor D4(DRD4)with various neurobehavioral *** We analyzed the association between ASD and four DRD4 genetic polymorphisms,5′flanking 120-bp duplication(rs4646984),rs1800955 in the promoter,exon 112 bp duplication(rs4646983),and exon 348 bp *** also examined plasma DA and its metabolite levels,DRD4 mRNA expression,and correlations of the studied polymorphisms with these parameters by case–control comparative *** expression of DA transporter(DAT),which is important in regulating the circulating DA level,was also *** A significantly higher occurrence of rs1800955“T/TT”was observed in the *** traits were affected by rs1800955“T”and the higher repeat alleles of the exon 348 bp repeats,rs4646983 and *** probands exhibited lower DA and norepinephrine levels together with higher homovanillic acid levels than the control *** and DRD4 mRNA expression were down-regulated in the probands,especially in the presence of DAT rs3836790“6R”and rs27072“CC”and DRD4 rs4646984 higher repeat allele and rs1800955“T”.Conclusion This pioneering investigation revealed a positive correlation between genetic variants,hypodopaminergic state,and impairment in socio-emotional and communication reciprocity in Indian subjects with ASD,warranting further in-depth analysis.

关键词： Autism spectrum disorder Dopamine Neurotransmitter

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