scholarly journals MITOCHONDRIAL DNA COPY NUMBER IS ASSOCIATED WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER

2020 ◽  
Vol 32 (2) ◽  
pp. 168-175
Author(s):  
Hakan Ogutlu ◽  
◽  
Ibrahim Selcuk Esin ◽  
Haktan Bagıs Erdem ◽  
Abdulgani Tatar ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Mitochondrial Dna ◽  
Attention Deficit ◽  
Copy Number ◽  
Dna Copy Number ◽  
Hyperactivity Disorder ◽  
Mitochondrial Dna Copy Number

scholarly journals MITOCHONDRIAL DNA COPY NUMBER IS ASSOCIATED WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER

2020 ◽  
Author(s):  
Hakan Öğütlü ◽  
İbrahim Selçuk Esin ◽  
Haktan Bağış Erdem ◽  
Abdülgani Tatar ◽  
Onur Burak Dursun
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Mitochondrial Dna ◽  
Mitochondrial Dysfunction ◽  
Attention Deficit ◽  
Copy Number ◽  
Control Group ◽  
Case Group ◽  
Adhd Group ◽  
Mtdna Copy Number ◽  
Hyperactivity Disorder

Background: Attention deficit hyperactivity disorder (ADHD) is the most common psychiatric disorder in children. Several hypotheses have been proposed to explain its etiology. Mitochondrial dysfunction (MD) is suggested to be one of the causes of Attention Deficit Hyperactivity Disorder. The objective of the study was to evaluate the relationship between MD and ADHD by investigating mitochondrial DNA (mtDNA) levels from peripheral blood leukocytes, one of the best biomarkers of mitochondrial dysfunction.Subjects and methods: This study included 56 children aged 6-16 years who were diagnosed with ADHD for the first time and 56 age- and sex-matched children without ADHD. Real-time PCR was performed to determine the relative mtDNA copy number in each study participant.Results: The mean mtDNA copy number of the case group was 57.623±24.827 and that of the control group was 44.204±18.926 (p=0.002). The mtDNA copy number of the case group was higher than that of the control group. Results of ROC curve analysis provided a mtDNA cutoff value of 45.Conclusion: Significantly higher mtDNA copy number in ADHD group may suggest mitochondrial dysfunction in the etiopathogenesis of ADHD.

scholarly journals An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Leandro de Araújo Lima ◽  
Ana Cecília Feio-dos-Santos ◽  
Sintia Iole Belangero ◽  
Ary Gadelha ◽  
Rodrigo Affonseca Bressan ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Copy Number ◽  
De Novo ◽  
Copy Number Variants ◽  
Integrative Approach ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Hyperactivity Disorder ◽  
New Genes

Abstract Many studies have attempted to investigate the genetic susceptibility of Attention-Deficit/Hyperactivity Disorder (ADHD), but without much success. The present study aimed to analyze both single-nucleotide and copy-number variants contributing to the genetic architecture of ADHD. We generated exome data from 30 Brazilian trios with sporadic ADHD. We also analyzed a Brazilian sample of 503 children/adolescent controls from a High Risk Cohort Study for the Development of Childhood Psychiatric Disorders, and also previously published results of five CNV studies and one GWAS meta-analysis of ADHD involving children/adolescents. The results from the Brazilian trios showed that cases with de novo SNVs tend not to have de novo CNVs and vice-versa. Although the sample size is small, we could also see that various comorbidities are more frequent in cases with only inherited variants. Moreover, using only genes expressed in brain, we constructed two “in silico” protein-protein interaction networks, one with genes from any analysis, and other with genes with hits in two analyses. Topological and functional analyses of genes in this network uncovered genes related to synapse, cell adhesion, glutamatergic and serotoninergic pathways, both confirming findings of previous studies and capturing new genes and genetic variants in these pathways.

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