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Disruption of DNA Repair as an Emerging Epigenetic Mechanism Underlying Autism Spectrum Disorder
Benjamin Kelvington1,2,3, Jaekyoon Kim1,2, Sourav Banerjee4
1Department of Neuroscience and Pharmacology, Carver College of Medicine, University of Iowa, 169 Newton Rd, Iowa City, IA, 52242, USA.
Current Psychiatry Reports
|May 30, 2026
Summary
DNA repair gene dysfunction is increasingly linked to autism spectrum disorder (ASD). Epigenetic mechanisms regulating DNA repair offer new insights into ASD
Area of Science:
- Genetics
- Epigenetics
- Neurodevelopmental Disorders
Background:
- Autism spectrum disorder (ASD) is a complex neurodevelopmental condition.
- Genetic factors play a significant role in ASD etiology.
- Emerging research suggests a link between DNA repair mechanisms and ASD.
Purpose of the Study:
- To review recent advancements in understanding epigenetic mechanisms of DNA repair in ASD.
- To explore the role of DNA repair gene dysfunction in ASD pathogenesis.
Main Methods:
- Literature review of genetic and molecular studies.
- Analysis of recent findings on DNA repair and epigenetic regulation in ASD.
- Synthesis of evidence connecting DNA repair to neurodegeneration and sex differences in ASD.
Main Results:
- Genes involved in DNA repair are implicated in some ASD cases.
- Increased DNA damage observed in individuals with ASD and their parents.
- ASD-associated chromatin remodelers are involved in both gene expression and DNA repair.
- Mechanistic insights into epigenetic regulation of DNA repair by ASD-associated genes are emerging.
- DNA repair disruption may link ASD to neurodegenerative diseases and explain sex differences.
Conclusions:
- Dysfunction in DNA repair machinery is an underappreciated mechanism in ASD.
- Further systematic research is needed to elucidate the role of DNA repair in ASD.
- Understanding these mechanisms can benefit individuals with ASD and their families.
Related Concept Videos
01:19Autism Spectrum Disorder
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
01:38Nucleotide Excision Repair
DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
01:08Nucleotide Excision Repair
Overview
02:36DNA Damage can Stall the Cell Cycle
In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...
02:36DNA Damage Can Stall the Cell Cycle
In response to DNA damage, cells can pause the cell cycle to assess and repair the breaks. However, the cell must check the DNA at certain critical stages during the cell cycle. If the cell cycle pauses before DNA replication, the cells will contain twice the amount of DNA. On the other hand, if cells arrest after DNA replication but before mitosis, they will contain four times the normal amount of DNA. With a host of specialized proteins at their disposal,cells must use the right protein at...
02:54Nucleosome Remodeling
Nucleosomes are the basic units of chromatin compaction. Each nucleosome consists of the DNA bound tightly around a histone core, which makes the DNA inaccessible to DNA binding proteins such as DNA polymerase and RNA polymerase. Hence, the fundamental problem is to ensure access to DNA when appropriate, despite the compact and protective chromatin structure.
Nucleosome remodeling complex
Eukaryotic cells have specialized enzymes called ATP-dependent nucleosome remodeling enzymes. These enzymes...
Nucleosome remodeling complex
Eukaryotic cells have specialized enzymes called ATP-dependent nucleosome remodeling enzymes. These enzymes...