How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle

TL;DR

This review explores how copy number variations affect brain development and contribute to disorders like autism and schizophrenia by disrupting synapses.

Contribution

The paper synthesizes current research to clarify how CNVs lead to synaptic dysfunction in neurodevelopmental disorders.

Findings

CNVs are strongly linked to an increased risk of neurodevelopmental disorders.

CNVs disrupt synaptic development and function, which are essential for learning and behavior.

Understanding these disruptions may lead to more targeted therapies for NDDs.

Abstract

Neurodevelopmental disorders (NDDs), such as schizophrenia (SCZ), Attention‐deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), learning disabilities, and intellectual disabilities (ID), are highly prevalent. One significant genetic factor associated with NDDs is copy number variations (CNVs), which are structural changes in the genome that involve deletions or duplications of DNA segments. CNVs are known to significantly elevate the risk of developing NDDs and are increasingly being studied for their role in these conditions. While CNVs encompass a wide range of genetic alterations, emerging evidence suggests they may disrupt key biological processes, such as synaptic development and function in the brain, which are critical for learning and behavior. This review synthesizes findings from genetics, molecular biology, and related fields to explore the link between CNVs and synaptic pathology with therapeutic investigations. By understanding how CNVs compromise synaptic function, we identify paths to more targeted and effective therapies for neurodevelopmental disorders associated with CNVs.

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