An Overview of the Main Genetic, Epigenetic and Environmental Factors Involved in Autism Spectrum Disorder Focusing on Synaptic Activity

被引：150

作者：

Masini, Elena ^{[1
]}

Loi, Eleonora ^{[1
]}

Vega-Benedetti, Ana Florencia ^{[1
]}

Carta, Marinella ^{[2
]}

Doneddu, Giuseppe ^{[3
]}

Fadda, Roberta ^{[4
]}

Zavattari, Patrizia ^{[1
]}

机构：

[1] Univ Cagliari, Dept Biomed Sci, Unit Biol & Genet, I-09042 Cagliari, Italy

[2] Azienda Osped Brotzu, Ctr Pervas Dev Disorders, I-09121 Cagliari, Italy

[3] Ctr Autismo & Disturbi Correlati CADc, Nuovo Ctr Fisioterap Sardo, I-09131 Cagliari, Italy

[4] Univ Cagliari, Dept Pedag Psychol Philosophy, I-09123 Cagliari, Italy

来源：

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 2020年 / 21卷 / 21期

关键词：

autism spectrum disorder; ASD; genetic factors; epigenetic factors; environmental factors; pervasive developmental disorder; post-synaptic density; CNV; SNP; gene fusion; DE-NOVO MUTATIONS; GAIN-OF-FUNCTION; BODY-MASS INDEX; AUTOIMMUNE-DISEASES; RISK-FACTORS; MATERNAL INFECTION; FAMILY-HISTORY; PATERNAL AGE; POPULATION; CHANNEL;

D O I：

10.3390/ijms21218290

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects social interaction and communication, with restricted interests, activity and behaviors. ASD is highly familial, indicating that genetic background strongly contributes to the development of this condition. However, only a fraction of the total number of genes thought to be associated with the condition have been discovered. Moreover, other factors may play an important role in ASD onset. In fact, it has been shown that parental conditions and in utero and perinatal factors may contribute to ASD etiology. More recently, epigenetic changes, including DNA methylation and micro RNA alterations, have been associated with ASD and proposed as potential biomarkers. This review aims to provide a summary of the literature regarding ASD candidate genes, mainly focusing on synapse formation and functionality and relevant epigenetic and environmental aspects acting in concert to determine ASD onset.

引用

页码：1 / 22

页数：22

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