scholarly journals A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder

2008 ◽  
Vol 13 (4) ◽  
pp. 365-367 ◽  
Author(s):  
J McKinney ◽  
S Johansson ◽  
A Halmøy ◽  
M Dramsdahl ◽  
I Winge ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Tryptophan Hydroxylase ◽  
Loss Of Function ◽  
Tryptophan Hydroxylase 2 ◽  
Hyperactivity Disorder

Genetic Variants and Haplotypes of Tryptophan Hydroxylase 2 and Reelin Genes May Be Linked with Attention Deficit Hyperactivity Disorder in Egyptian Children

2020 ◽  
Vol 11 (14) ◽  
pp. 2094-2103
Author(s):  
Wafaa Moustafa M. Abo El Fotoh ◽  
Noha Rabie Bayomy ◽  
Zeinab A. Kasemy ◽  
Ahmed Moustafa Barain ◽  
Basma Mofed Shalaby ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Genetic Variants ◽  
Tryptophan Hydroxylase ◽  
Tryptophan Hydroxylase 2 ◽  
Hyperactivity Disorder ◽  
Egyptian Children

scholarly journals Reward sensitivity, affective neuroscience personality, symptoms of attention-deficit/hyperactivity disorder, and TPH2-703G/T (rs4570625) genotype

2020 ◽  
Vol 32 (5) ◽  
pp. 247-256 ◽  
Author(s):  
Aleksander Pulver ◽  
Evelyn Kiive ◽  
Jaanus Harro
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Tryptophan Hydroxylase ◽  
Negative Relationship ◽  
Reward Sensitivity ◽  
Self Report ◽  
Measurement Scale ◽  
Health Study ◽  
Affective Neuroscience ◽  
Hyperactivity Disorder

AbstractObjective:Reward sensitivity is an increasingly used construct in psychiatry, yet its possible inner structure and relationship with other affective variables are not well known.Methods:A reward sensitivity measurement scale was constructed on the basis of large item pool collected from birth cohort representative samples (the Estonian Children Personality Behaviour and Health Study; original n = 1238). Affective Neuroscience Personality Scale (ANPS) and the Adult Attention deficit hyperactivity disorder (ADHD) Self-Report Scale (ASRS) were administered in young adulthood. A variant (rs4570625) of the gene encoding tryptophan hydroxylase 2 (TPH2) that is responsible for the synthesis of central serotonin was genotyped.Results:Reward sensitivity consisted of two orthogonal components, operationally defined as Openness to Rewards and Insatiability by Reward, that respectively characterise the striving towards multiple rewards and the strong pursuit and fixation to a particular reward. While SEEKING and PLAY (and to lower extent CARE) of the ANPS co-varied with Openness to Rewards, FEAR, SADNESS, and ANGER were related to Insatiability by Reward. The total score of ASRS was moderately correlated with Insatiability by Reward, while the association with Openness to Rewards was negligible. However, ASRS Inattention had some negative relationship with the Social Experience facet of Openness to Rewards. The T/T homozygotes for the TPH2 promoter polymorphism had lower Insatiability by Reward but not Openness to Rewards.Conclusions:Behaviours sensitive to rewards are separable to the components of variability and fixation, and these components are differentially related to affective aspects of personality, attention, and hyperactivity as well as to TPH2 genotype.

scholarly journals Haploinsufficiency of the Attention-Deficit/Hyperactivity Disorder Risk Gene St3gal3 in Mice Causes Alterations in Cognition and Expression of Genes Involved in Myelination and Sialylation

2021 ◽  
Vol 12 ◽  
Author(s):  
Olga Rivero ◽  
Judit Alhama-Riba ◽  
Hsing-Ping Ku ◽  
Matthias Fischer ◽  
Gabriela Ortega ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Brain Plasticity ◽  
Meta Analysis ◽  
Neurological Deficits ◽  
Loss Of Function ◽  
Hyperactivity Disorder ◽  
Risk Gene ◽  
Null Mutant Mice ◽  
The Impact

Genome wide association meta-analysis identified ST3GAL3, a gene encoding the beta-galactosidase-alpha-2,3-sialyltransferase-III, as a risk gene for attention-deficit/hyperactivity disorder (ADHD). Although loss-of-function mutations in ST3GAL3 are implicated in non-syndromic autosomal recessive intellectual disability (NSARID) and West syndrome, the impact of ST3GAL3 haploinsufficiency on brain function and the pathophysiology of neurodevelopmental disorders (NDDs), such as ADHD, is unknown. Since St3gal3 null mutant mice display severe developmental delay and neurological deficits, we investigated the effects of partial inactivation of St3gal3 in heterozygous (HET) knockout (St3gal3±) mice on behavior as well as expression of markers linked to myelination processes and sialylation pathways. Our results reveal that male St3gal3 HET mice display cognitive deficits, while female HET animals show increased activity, as well as increased cognitive control, compared to their wildtype littermates. In addition, we observed subtle alterations in the expression of several markers implicated in oligodendrogenesis, myelin formation, and protein sialylation as well as cell adhesion/synaptic target glycoproteins of ST3GAL3 in a brain region- and/or sex-specific manner. Taken together, our findings indicate that haploinsufficiency of ST3GAL3 results in a sex-dependent alteration of cognition, behavior and markers of brain plasticity.

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