Polymorphisms of candidate genes in Slovak autistic patients

Kelemenova, Silvia; Schmidtová, Eva; Ficek, Andrej; Celec, Peter; Kubranská, Aneta; Ostatníková, Daniela

doi:10.1097/ypg.0b013e32833a1eb3

Cited by 49 publications

(36 citation statements)

References 24 publications

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“…Firstly, significant association between OXTR SNPs [21][22][23][24][25][26] and risk for autism has been provisionally shown (but also see [27,28]) and, notably, was mediated by socialization skills in our study [23]. Additionally, SNPs associated with ASD are also associated with amygdala volume [29], depression/anxiety [29], negative emotionality [30], attention deficit [31], adult attachment styles [32,33] (but see [34]), affectivity, emotional loneliness and IQ [35], empathy and stress reactivity [36], observed parenting [37], with sexual phenotypes [38] and in our own studies with prosocial behavior [39].…”

Section: Oxytocin and Autism Spectrum Disorders (Asd)mentioning

confidence: 99%

Are retinoids potential therapeutic agents in disorders of social cognition including autism?

et al. 2011

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Edited by Sergio Papa, Gianfranco Gilardi and Wilhelm JustKeywords: Autism spectrum disorder (ASD) All-trans retinoic acid (ATRA) CD38 Oxytocin Polymorphism a b s t r a c t Increasing evidence suggests that the nonapeptide, oxytocin (OT), helps shape social and affiliative behaviors not only in lower mammals but also in humans. Recently, an essential mediator of brain OT release has been discovered, ADP-ribosyl cyclase and/or CD38. We have subsequently shown that polymorphisms across the CD38 gene are associated with autism spectrum disorders (ASD). Notably, CD38 expression in lymphoblastoid cells (LBC) is reduced in cell lines derived from ASD subjects compared to parental cell lines. Intriguingly, a correlation was observed between CD38 expression and measures of social function in ASD. Finally, we have shown that all-trans retinoic acid (ATRA), a known inducer of CD38 transcription, can rescue low CD38 expressing LBC lines derived from ASD subjects and restore normal levels of transcription of this ectoenzyme providing 'proof of principle' in a peripheral model that retinoids are potential therapeutic agents in ASD. Ó 2011 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved. OxytocinClassically, the nonapeptide oxytocin (OT) has been viewed as a hypothalamic neuropeptide that is released into the general circulation from the neural lobe of the pituitary, inducing uterine contractions during parturition and milk ejection during lactation. OT is derived from a pre-prohormone precursor that is synthesized in the hypothalamus and stored in vesicles at the posterior pituitary for storage and subsequent release into the bloodstream (see [1] for comprehensive review of the oxytocin receptor system). OT and social behaviorBeyond the long-known peripheral effects of OT, a wealth of animal studies have elaborated the role of OT, or their analogues such as isotocin and vasotocin [2], in molding social behavior from fish to mammals [3]. In the past few years the role of OT has also been examined in our own species, and similar to what has been learned from animal studies, it appears that this nonapeptides also influence social behaviors in humans [4,5]. Indeed, OT has been suggested as the 'great facilitator of life' in a recent review [6].In humans, intranasal administration of OT has been shown to increase trust [7], facilitate mind-reading [8], enhance human memory for social identity [9], increase positive communication between couples [10], increase gaze to the eye region [11] and increase generosity [12]. Intriguingly, OT plasma levels have been linked to individual patterns of maternal-fetal attachment [13] and salivary OT levels were associated with bonding to own parents and inversely related to psychological distress, particularly depressive symptoms [14]. Social anxiety symptom severity, adjusted for age and gender in a healthy group of subjects, was associated with higher plasma oxytocin levels [15]. Imaging studies reinforce the role of OT in influencing human social ...

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Section: Oxytocin and Autism Spectrum Disorders (Asd)mentioning

confidence: 99%

Are retinoids potential therapeutic agents in disorders of social cognition including autism?

et al. 2011

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“…GABA is an inhibitory neurotransmitter in the mammalian brain (34). Several studies identified evidence for linkage or association with the GABA receptor genes on chromosome 15q in autism patients (15,17). the protein encoded by APBA2 interacts and inhibits production of proteolytic Alzheimer's disease amyloid precursor protein (APP) (25).…”

Section: Resultsmentioning

confidence: 99%

Detection of Genomic Imbalances by Array-Based Comparative Genomic Hybridization in Bulgarian Patients with Autism Spectrum Disorders

Avdjieva-Tzavella

Hadjidekova

Rukova

et al. 2012

Biotechnology & Biotechnological Equipment

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“…We have seen a trend towards a negative correlation, but we have not confirmed a predicted negative correlation probably due to the small number of subjects. Another possible explanation could be that testosterone influences cognition via its metabolites estradiol or dihydrotestosterone (Celec Kelemenova et al 2010;Verhovshek et al 2010). Ostatnikova et al (2010) suggested that changes in spatial performance may depend on salivary testosterone fluctuations in both male and female subjects throughout a month, which would support the activational effects of currently circulating testosterone levels.…”

Section: Discussionmentioning

confidence: 99%

Spatial abilities are not related to testosterone levels and variation in the androgen receptor in healthy young men

Kubranská

Lakatošová²,

Schmidtová³

et al. 2014

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Abstract. Androgens modulate brain functions such as cognition, emotions and ability. Several studies have shown a correlation between testosterone levels and mental rotation. The aim of the present study was to confirm the influence of salivary testosterone levels, 2D/4D ratio (such as a putative marker of prenatal testosterone), and sensitivity of androgen receptor on the mental rotation in healthy young men. Seventy-five healthy young men (age, 21.86 year) volunteered in this study. Mental rotation scores of our subjects were assessed using the Vandenberg and Kuse Mental Rotation Test. The 2D/4D finger length ratio as an indicator of prenatal testosterone was used as an average measurement of both hands. Correlation analysis revealed no correlation between salivary testosterone levels and mental rotation. However, we have observed a trend towards a negative correlation. There were no statistically significant results between 2D/4D ratio and mental rotation or between polymorphic three-nucleotide (CAG) repeats and mental rotation tests. Future studies should focus on other genetic determinants of spatial abilities, potentially genes involved in testosterone metabolism.

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Polymorphisms of candidate genes in Slovak autistic patients

Cited by 49 publications

References 24 publications

Are retinoids potential therapeutic agents in disorders of social cognition including autism?

Are retinoids potential therapeutic agents in disorders of social cognition including autism?

Detection of Genomic Imbalances by Array-Based Comparative Genomic Hybridization in Bulgarian Patients with Autism Spectrum Disorders

Spatial abilities are not related to testosterone levels and variation in the androgen receptor in healthy young men

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