Longitudinal genetic studies of cognitive characteristics

Мустафин, Р. Н.; Казанцева, А.; Enikeeva, R. F.; Malykh, Sergey; Хуснутдинова, Э. К.

doi:10.18699/vj20.599

Cited by 13 publications

(14 citation statements)

References 82 publications

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“…In particular, in a modern high-tech society, spatial abilities (i. e., ability for 3D mental rotation) predict success in life and professional activity, especially in STEM (Science, Technology, Engineering, and Mathematics) disciplines (Nagy-Kondor, 2017). The hypotheses of an individual trajectory of spatial ability existing to date suggest a significant role of genetic, epigenetic and environmental factors (Mustafin et al, 2020;Takhirova et al, 2021). According to twin research, the impact of the genetic component on individual variance in this trait varies within 64-84 %, depending on the type of examined spatial ability (Malanchini et al, 2020).…”

Section: Introductionmentioning

confidence: 99%

“…According to neurobiological hypotheses, individual differences in cognitive abilities may be due to the specificity of gene functioning involved in the regulation of neurogenesis and synaptic plasticity in such brain regions as prefrontal cortex and hippocampus (Mustafin et al, 2020). The latter process represents the development of neuronal connections as a response to novel experiences.…”

Section: Introductionmentioning

confidence: 99%

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The role of the KIBRA and APOE genes in developing spatial abilities in humans

et al. 2022

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In the contemporary high-tech society, spatial abilities predict individual life and professional success, especially in the STEM (Science, Technology, Engineering, and Mathematics) disciplines. According to neurobiological hypotheses, individual differences in cognitive abilities may be attributed to the functioning of genes involved in the regulation of neurogenesis and synaptic plasticity. In addition, genome-wide association studies identified rs17070145 located in the KIBRA gene, which was associated with individual differences in episodic memory. Considering a significant role of genetic and environmental components in cognitive functioning, the present study aimed to estimate the main effect of NGF (rs6330), NRXN1 (rs1045881, rs4971648), KIBRA (rs17070145), NRG1 (rs6994992), BDNF (rs6265), GRIN2B (rs3764030), APOE (rs7412, rs429358), and SNAP25 (rs363050) gene polymorphisms and to assess the effect of gene-environment interactions on individual differences in spatial ability in individuals without cognitive decline aged 18–25 years (N = 1011, 80 % women). Spatial abilities were measured using a battery of cognitive tests including the assessment of “3D shape rotation” (mental rotation). Multiple regression analysis, which was carried out in the total sample controlling for sex, ethnicity and the presence of the “risk” APOE ε4 allele, demonstrated the association of the rs17070145 Т-allele in the KIBRA gene with enhanced spatial ability (β = 1.32; pFDR = 0.037) compared to carriers of the rs17070145 CC-genotype. The analysis of gene-environment interactions revealed that nicotine smoking (β = 3.74; p = 0.010) and urban/rural residency in childhood (β = –6.94; p = 0.0002) modulated the association of KIBRA rs17070145 and АРОЕ (rs7412, rs429358) gene variants with individual differences in mental rotation, respectively. The data obtained confirm the effect of the KIBRA rs17070145 Т-allele on improved cognitive functioning and for the first time evidence the association of the mentioned genetic variant with spatial abilities in humans. A “protective” effect of the APOE ε2 allele on enhanced cognitive functioning is observed only under certain conditions related to childhood rearing.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The role of the KIBRA and APOE genes in developing spatial abilities in humans

et al. 2022

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“…The appropriate correction of epigenetic factors related to environmental differences in cognitive abilities requires determining the mechanisms of chromatin modifications and variations in DNA methylation. Transposons representing stress-sensitive DNA elements appeared to mediate the environmental influence on epigenetic modifications [25]. This is interesting in the context of data showing that increased expression of the stress-responsive genes results from a lack of histone H3 lysine (K) 4 methylation [26].…”

Section: Discussionmentioning

confidence: 92%

MicroRNA Let-7e in the Mouse Prefrontal Cortex Differentiates Restraint-Stress-Resilient Genotypes from Susceptible Genotype

Solich

Kolasa

Faron-Górecka

et al. 2021

IJMS

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Three strains of mice with various susceptibilities to restraint stress (RS), i.e., mice with a knocked out norepinephrine transporter gene (NET-KO), SWR/J and C57BL/6J (WT) mice were shown to serve as a good model to study the molecular mechanisms underlying different stress-coping strategies. We identified 14 miRNAs that were altered by RS in the PFC of these mice in a genotype-dependent manner, where the most interesting was let-7e. Further in silico analysis of its potential targets allowed us to identify five mRNAs (Bcl2l11, Foxo1, Pik3r1, Gab1 and Map2k4), and their level alterations were experimentally confirmed. A next-generation sequencing (NGS) approach, which was employed to find transcripts differentially expressed in the PFC of NET-KO and WT mice, showed that, among others, two additional mRNAs were regulated by mmu-let-7e, i.e., mRNAs that encode Kmt2d and Inf2. Since an increase in Bcl2l11 and Pik3r1 mRNAs upon RS in the PFC of WT mice resulted from the decrease in mmu-let-7e and mmu-miR-484 regulations, we postulated that MAPK, FoxO and PI3K-Akt signaling pathways were associated with stress resilience, although via different, genotype-dependent regulation of various mRNAs by let-7e and miR-484. However, a higher level of Kmt2d mRNA (regulated by let-7e) that was found with NGS analysis in the PFC of NET-KO mice indicated that histone methylation was also important for stress resilience.

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“…Нами впервые описан клинический случай ходьбы на носках, возможная причина которой -возникшее de novo изменение в гене CREBBP. Известно, что ген CREBBP кодирует гистонацетилтрансферазу -активатор транскрипции, который взаимодействует с несколькими другими факторами транскрипции и белками [8], участвует в метилировании ДНК и вовлечен в добавление боковых групп аминокислотных остатков гистонов [9]. Обнаруженный нами нуклеотидный вариант c.5600G>A приводит к аминокислотному варианту p.Arg1867Gln в консервативной области и является патогенным, согласно трем программам, используемым для прогнозирования функции генов in silico [10].…”

Section: Discussionunclassified

“…Связь вариантов нуклеотидной последовательности в гене CREBBP с ходьбой на носках может быть обусловлена его участием в эпигенетической регуляции генов, участвующих в построении и поддержании функции центров головного мозга, необходимых для адаптации организма к изменяющимся физическим и социальным условиям. Данный ген играет роль не только в нормальном когнитивном развитии, но и в этиопатогенезе нарушений когнитивных способностей [9]. Это может быть важным, так как ходьба на носках представляет собой привычку, позицию, которую ребенок принимает автоматически, что также обусловлено работой головного мозга [1].…”

Section: клиническое наблюдение Clinical Observationunclassified

Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case

Pomarino

Трен

et al. 2021

Vopr. sovr. pediatr.

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Background. Pathogenic variants of the CREBBP gene have been revealed in patients with Rubinstein–Taybi and Menke–Hennekam syndromes, however, the toe walking symptom was not mentioned in these pathologies.Clinical Case Description. The pathogenic nucleotide variant c.5600G>A in heterozygous state in the CREBBP gene was revealed in our 9-year-old female patient with refractory toe walking and developmental speech delay. There were no abnormalities typical for Rubinstein–Taybi syndrome, but there were several signs of Menke–Hennekam syndrome.Conclusion. The genetic anomaly associated with toe walking is described. This observation allows us to critically relate to the hypothesis about the idiopathic genesis of this form of gait disorder at the absence of obvious neurological or orthopedic causes of its development.

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Longitudinal genetic studies of cognitive characteristics

Cited by 13 publications

References 82 publications

The role of the KIBRA and APOE genes in developing spatial abilities in humans

The role of the KIBRA and APOE genes in developing spatial abilities in humans

MicroRNA Let-7e in the Mouse Prefrontal Cortex Differentiates Restraint-Stress-Resilient Genotypes from Susceptible Genotype

Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case

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