Genetics and epigenetics of attention deficit hyperactivity disorder

Мустафин, Р. Н.; Enikeeva, R. F.; Malykh, Sergey; Valinurov, Rinat; Khusnutdinova, Elza

doi:10.17116/jnevro2018118091106

Cited by 8 publications

(7 citation statements)

References 59 publications

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“…The five major neuropsychiatric disorders are bipolar disorder (BP), MDD, ADHD, Schizophrenia (SCZ), and PTSD; many of these disorders have overlapping symptomatology or high comorbidity rates making it challenging to make a definite diagnosis. Each one of the neuropsychiatric disorders has been extensively linked to genetics in that having a parent or sibling with the neuropsychiatric disorders increases the risk of development of that disorder (Picchioni et al ; Mustafin et al ; Stapp et al ; Isaksson et al ; Elsayed et al ). Similar to the role of NE and DβH in substance abuse, DβH involvement in neuropsychiatric disorders is linked to alterations in plasma/sera DβH activity (Table ), while direct pharmaceutical interventions in NE signaling (antagonist/agonist) or DβH (inhibitor) are frequency employed in treatment (Maletic et al ).…”

Section: Neuropsychiatric Issues and Dβhmentioning

confidence: 99%

Dopamine beta‐hydroxylase and its genetic variants in human health and disease

Gonzalez-Lopez

Vrana

2019

Journal of Neurochemistry

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Dopamine beta-hydroxylase (DbH) is an essential neurotransmitter-synthesizing enzyme that catalyzes the formation of norepinephrine (NE) from dopamine and has been extensively studied since its discovery in the 1950s. NE serves as a neurotransmitter in both the central and peripheral nervous systems and is the precursor to epinephrine synthesis in the brain and adrenal medulla. Alterations in noradrenergic signaling have been linked to both central nervous system and peripheral pathologies. DbH protein, which is found in circulation, can, therefore, be evaluated as a marker of norepinephrine function in a plethora of different disorders and diseases. In many of these diseases, DbH protein availability and activity are believed to contribute to disease presentation or select symptomology and are believed to be under strong genetic control. Alteration in the DbH protein by genetic polymorphisms may result in DbH becoming ratelimiting and directly contributing to lower NE and epinephrine levels and disease. With the completion of the human genome project and the advent of next-generation sequencing, new insights have been gained into the existence of naturally occurring DbH sequencing variants (genetic polymorphisms) in disease. Also, biophysical tools coupled with genetic sequences are illuminating structure-function relationships within the enzyme. In this review, we discuss the role of genetic variants in DbH and its role in health and disease.

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Section: Neuropsychiatric Issues and Dβhmentioning

confidence: 99%

Dopamine beta‐hydroxylase and its genetic variants in human health and disease

Gonzalez-Lopez

Vrana

2019

Journal of Neurochemistry

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“…Thus, as described in Table 2, some genes related to psychiatric disorders can also be thought of as a possible link between violent behaviour and sleep disruption (Agorastos et al, 2019;Bhatti et al, 2015;Cupertino et al, 2017;Killgore, 2013;Kohannim et al, 2012;Lamont et al, 2007;Motomura et al, 2013;Mustafin et al, 2018;Rautiainen et al, 2016;Reijnders et al, 2017;Taki et al, 2012;Tiihonen et al, 2015;Zhang et al, 2019).…”

Section: Genes Violent Behaviours and Sleepmentioning

confidence: 99%

Sleep and violence perpetration: A review of biological and environmental substrates

Paiva

Canas-Simião

2022

Journal of Sleep Research

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The World Health Organization (WHO) defines violence as "the intentional use of physical force or power, threatened or actual, against oneself, another person, or against a group or community, which either results in or has a high likelihood of resulting in injury, death, psychological harm, maldevelopment, or deprivation" (Krug et al., 2002). The Global Health Observatory of the WHO reported homicide as the third prime cause of death for males aged between 15 and 44 years old; 25% of adults reported a background of physical abuse (Global Health Observatory, 2012).Low socio-economic environments have a higher prevalence of violence and crime and sleep complaints, sleep disorders and less hours of mean sleep duration (

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“…It is known that the synaptosomal-associated protein 25 (SNAP25), together with syntaxin-1A (STX1A) and vesicle-associated membrane protein 2 (VAMP2), mediates neurotransmitters released by the fusion of synaptic vesicles [162,163]. It was also already reported that alterations in gene expression of SNAP25 in mammals are associated with schizophrenia-like behavior [164], and sequence variations in the SNAP25 locus are associated with attention-deficit/hyperactivity disorder (ADHD) [165][166][167].…”

Section: Synaptic Vesicle Trafficking and Exocytosismentioning

confidence: 99%

Non-Syndromic Intellectual Disability and Its Pathways: A Long Noncoding RNA Perspective

Barros

Leão

Santis

et al. 2021

ncRNA

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Non-syndromic intellectual disability (NS-ID or idiopathic) is a complex neurodevelopmental disorder that represents a global health issue. Although many efforts have been made to characterize it and distinguish it from syndromic intellectual disability (S-ID), the highly heterogeneous aspect of this disorder makes it difficult to understand its etiology. Long noncoding RNAs (lncRNAs) comprise a large group of transcripts that can act through various mechanisms and be involved in important neurodevelopmental processes. In this sense, comprehending the roles they play in this intricate context is a valuable way of getting new insights about how NS-ID can arise and develop. In this review, we attempt to bring together knowledge available in the literature about lncRNAs involved with molecular and cellular pathways already described in intellectual disability and neural function, to better understand their relevance in NS-ID and the regulatory complexity of this disorder.

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Genetics and epigenetics of attention deficit hyperactivity disorder

Cited by 8 publications

References 59 publications

Dopamine beta‐hydroxylase and its genetic variants in human health and disease

Dopamine beta‐hydroxylase and its genetic variants in human health and disease

Sleep and violence perpetration: A review of biological and environmental substrates

Non-Syndromic Intellectual Disability and Its Pathways: A Long Noncoding RNA Perspective

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