scholarly journals Genetic determinants of autism spectrum disorders - a review

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Paweł Stanicki ◽  
Konrad Goliszek ◽  
Karol Kasprzak ◽  
Agata Makarewicz
Keyword(s):  
Autism Spectrum Disorders ◽  
Autistic Spectrum Disorder ◽  
Genetic Factors ◽  
Fragile X ◽  
Autism Spectrum ◽  
Repetitive Behaviours ◽  
Genetic Determinants ◽  
Diagnostic Potential ◽  
Main Factors ◽  
Spectrum Disorders

Abstract Introduction: It is estimated that various types of abnormalities from the autistic spectrum disorder occur in up to 2% of the population. These include difficulties in maintaining relationships, communication, and repetitive behaviours. Literature describes them quite well, in contrast to the causes of these disorders, which include both environmental factors and a very long list of genetic aberrations. Materials and methods: The papers available on the PubMed platform and other sources were reviewed to describe the most important genetic factors responsible for the development of autism spectrum disorders. Results: There are many genes and their mutations associated with the prevalence of autism spectrum disorders in patients. One of the main factors is the SHANK gene family, with the type and degree of abnormality in patients depending on the damage to particular genes: SHANK1-SHANK3. Research also shows the potential of targeted symptom-relieving therapies in patients with SHANK3 mutations. A correlation with the occurrence of autism has also been demonstrated for genes responsible for calcium signaling - especially the group of IP3R calcium channels. Their calcium transmission is abnormal in the majority of patients with autism spectrum disorders. A number of mutations in the 7q region were discovered - including the AUTS2, GNAI1, RELN, KMT2E, BRAF genes - the occurrence of which is associated with the presence of symptoms of autism. Autism spectrum disorders occur in about 10% of patients suffering from monogenic syndromes such as fragile X chromosome syndrome, Timothy syndrome, tuberous sclerosis, Rett syndrome or hamartomatic tumor syndrome. Conclusions: Research shows that many mutations can contribute to the development of autism spectrum disorders. Further studies are necessary to discover their therapeutic and diagnostic potential for autism.

scholarly journals The role of genetic factors and pre- and peri-natal influences in the etiology of autism spectrum disorders – indications for genetic referral

2016 ◽  
Vol 50 (3) ◽  
pp. 543-554 ◽  
Author(s):  
Filip Rybakowski ◽  
Izabela Chojnicka ◽  
Piotr Dziechciarz ◽  
Andrea Horvath ◽  
Małgorzata Janas-Kozik ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Genetic Factors ◽  
Autism Spectrum ◽  
Spectrum Disorders

scholarly journals Compromising the phosphodependent regulation of the GABAAR β3 subunit reproduces the core phenotypes of autism spectrum disorders

2015 ◽  
Vol 112 (48) ◽  
pp. 14805-14810 ◽  
Author(s):  
Thuy N. Vien ◽  
Amit Modgil ◽  
Armen M. Abramian ◽  
Rachel Jurd ◽  
Joshua Walker ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Fragile X ◽  
Repetitive Behavior ◽  
Autism Spectrum ◽  
Membrane Stability ◽  
Receptor Subtypes ◽  
Neuronal Inhibition ◽  
Spectrum Disorders ◽  
Spine Structure

Alterations in the efficacy of neuronal inhibition mediated by GABAA receptors (GABAARs) containing β3 subunits are continually implicated in autism spectrum disorders (ASDs). In vitro, the plasma membrane stability of GABAARs is potentiated via phosphorylation of serine residues 408 and 409 (S408/9) in the β3 subunit, an effect that is mimicked by their mutation to alanines. To assess if modifications in β3 subunit expression contribute to ASDs, we have created a mouse in which S408/9 have been mutated to alanines (S408/9A). S408/9A homozygotes exhibited increased phasic, but decreased tonic, inhibition, events that correlated with alterations in the membrane stability and synaptic accumulation of the receptor subtypes that mediate these distinct forms of inhibition. S408/9A mice exhibited alterations in dendritic spine structure, increased repetitive behavior, and decreased social interaction, hallmarks of ASDs. ASDs are frequently comorbid with epilepsy, and consistent with this comorbidity, S408/9A mice exhibited a marked increase in sensitivity to seizures induced by the convulsant kainic acid. To assess the relevance of our studies using S408/9A mice for the pathophysiology of ASDs, we measured S408/9 phosphorylation in Fmr1 KO mice, a model of fragile X syndrome, the most common monogenetic cause of ASDs. Phosphorylation of S408/9 was selectively and significantly enhanced in Fmr1 KO mice. Collectively, our results suggest that alterations in phosphorylation and/or activity of β3-containing GABAARs may directly contribute to the pathophysiology of ASDs.

Parental reports on early language and motor milestones in fragile X syndrome with and without autism spectrum disorders

2012 ◽  
Vol 16 (1) ◽  
pp. 58-66 ◽  
Author(s):  
Rebecca Hinton ◽  
Dejan B. Budimirovic ◽  
Peter B. Marschik ◽  
Victor B. Talisa ◽  
Christa Einspieler ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Early Language ◽  
Parental Reports ◽  
Spectrum Disorders

scholarly journals No Association between the rs1799836 Polymorphism of the Monoamine Oxidase B Gene and the Risk of Autism Spectrum Disorders in the Kazakhstani Population

2019 ◽  
Vol 2019 ◽  
pp. 1-6 ◽  
Author(s):  
Anastassiya V. Perfilyeva ◽  
Kira B. Bespalova ◽  
Liliya A. Skvortsova ◽  
Assel Surdeanu ◽  
Aleksandr A. Garshin ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Large Scale ◽  
Genetic Factors ◽  
Genetic Variant ◽  
Autism Spectrum ◽  
Healthy Siblings ◽  
Hardy Weinberg Equilibrium ◽  
Spectrum Disorders ◽  
And Control ◽  
Gender Specific

Autism spectrum disorders (ASDs) are heterogeneous diseases that are triggered by a number of environmental and genetic factors. The aim of the current study was to investigate an association of the rs1799836 genetic variant of the neurotransmitter-related gene MAOB with ASDs. In total, 262 patients diagnosed with ASDs and their 126 healthy siblings were included in the present study. All individuals represented a Kazakhstani population. The distributions of the rs1799836 genotype were in accordance with the Hardy-Weinberg equilibrium among both cases and controls. No statistically significant differences were found in the allelic distributions of this polymorphism between ASD and control subjects (A/G: for males OR=1.11, 95% 0.59-2.06, p=0.75; for females OR=1.14, 95% 0.70-1.86, p=0.76). However, the increased score in the overall CARS was significantly associated with the A allele of rs1799836 MAOB for females (OR=2.31, 95% 1.06-5.04, p=0.03). The obtained results suggest that the rs1799836 polymorphism of the MAOB gene may have little contribution to the development of ASDs but may be involved in pathways contributing to ASD symptom severity in females. Further large-scale investigations are required to uncover possible relationships between rs1799836 MAOB and ASD progression in a gender-specific manner and their possible application as a therapeutic target.

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