Genetic pathways to autism spectrum disorders

Mehta, Sunil; Nurmi, Erika L.

doi:10.2217/npy.13.16

Cited by 4 publications

(2 citation statements)

References 177 publications

(99 reference statements)

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“…Twin studies have shown that family accumulation of autistic traits is a consequence of high heritability (h2:0.8). Patients were found to have changes in the number of chromosomes in separate cells, nucleotide substitutions in the structural genes, an abnormally changed gene copy number [ 46 – 49 ]. There was established the influence of parental age on the emergence of chromosome aberrations [ 50 , 51 ].…”

Section: Systemic Approaches To the Study Of Autism Spectrum Disordersmentioning

confidence: 99%

Molecular Mechanisms of Aberrant Neuroplasticity in Autism Spectrum Disorders (Review)

Anashkina¹,

Ерлыкина²

2021

Sovrem Tehnol Med

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This review presents the analysis and systematization of modern data on the molecular mechanisms of autism spectrum disorders (ASD) development. Polyetiology and the multifactorial nature of ASD have been proved. The attempt has been made to jointly review and systematize current hypotheses of ASD pathogenesis at the molecular level from the standpoint of aberrant brain plasticity. The mechanism of glutamate excitotoxicity formation, the effect of imbalance of neuroactive amino acids and their derivatives, neurotransmitters, and hormones on the ASD formation have been considered in detail. The strengths and weaknesses of the proposed hypotheses have been analyzed from the standpoint of evidence-based medicine. The conclusion has been drawn on the leading role of glutamate excitotoxicity as a biochemical mechanism of aberrant neuroplasticity accompanied by oxidative stress and mitochondrial dysfunction. The mechanism of aberrant neuroplasticity has also been traced at the critical moments of the nervous system development taking into account the influence of various factors of the internal and external environment. New approaches to searching for ASD molecular markers have been considered.

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Section: Systemic Approaches To the Study Of Autism Spectrum Disordersmentioning

confidence: 99%

Molecular Mechanisms of Aberrant Neuroplasticity in Autism Spectrum Disorders (Review)

Anashkina¹,

Ерлыкина²

2021

Sovrem Tehnol Med

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“…A number of review papers focusing on 'translational' neuroscience in ASD are included in this issue. The first, co-authored by Mehta and Nurmi, is one of the clearest and most cogent presentations on the genetics of ASD you will find [8]. The authors provide detailed but easily understood information pertaining to the 10-20% of cases of ASD where a specific genetic etiology can be identified.…”

Section: Foreword Mcdouglementioning

confidence: 99%