Related Experiment Video
Updated: Aug 6, 2026
08:44
Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
Published on: October 17, 2025
Rare Variants in Purinergic P2X Receptor Genes (P2RX4, P2RX5, P2RX7) in Individuals With Autism Spectrum Disorder: An
Gül Ünsel-Bolat1, Hilmi Bolat2
1Department of Child and Adolescent Psychiatry, Faculty of Medicine, Balıkesir University, Balıkesir, Türkiye, balikesir.edu.tr.
Human Mutation
|July 19, 2026
Summary
Rare variants in Purinergic P2X receptors (P2RX) genes are explored for their potential link to autism spectrum disorder (ASD). While preliminary, these P2RX gene variants may offer insights into ASD-related neuroinflammatory pathways.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Purinergic P2X receptors (P2RX) mediate ATP-gated ion channel signaling crucial for neuroinflammation.
- P2RX dysregulation is linked to maternal immune activation, mitochondrial dysfunction, oxidative stress, and synaptic abnormalities in autism spectrum disorder (ASD).
- The specific contribution of P2RX gene variants to ASD pathogenesis remains largely uncharacterized.
Purpose of the Study:
- To investigate the presence and potential role of P2RX gene variants in individuals diagnosed with ASD.
- To analyze clinical, genetic, and in silico data for identified P2RX variants.
Main Methods:
- Retrospective analysis of whole-exome sequencing (WES) data from individuals with ASD.
- Identification of variants within the P2RX1-P2RX7 gene family.
- Classification of variants using ACMG/AMP guidelines and in silico pathogenicity predictions.
Main Results:
- Eleven individuals with heterozygous P2RX variants were identified, predominantly in P2RX7 (54.5%), P2RX5 (27.3%), and P2RX4 (18.2%).
- Core clinical features included ASD, intellectual disability (ID), and epilepsy.
- In silico analyses suggested moderate to high functional impact for several variants, though functional validation data were limited.
Conclusions:
- Rare P2RX variants represent preliminary, hypothesis-generating findings potentially relevant to ASD pathways.
- Further large-scale genetic studies and functional investigations are required to validate any association or causality between P2RX variants and ASD.
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.
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...