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Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
Published on: October 17, 2025
SNAP-25 single nucleotide polymorphisms are associated with hyperactivity in autism spectrum disorders.
Franca R Guerini1, Elisabetta Bolognesi, Matteo Chiappedi
1Don C. Gnocchi Foundation ONLUS, P. le Morandi 6, 20121 Milano, Italy. fguerini@dongnocchi.it
Pharmacological Research
|April 19, 2011
Summary
Genetic variations in the SNAP-25 gene were studied in children with autism spectrum disorder (ASD). A specific SNAP-25 gene polymorphism (rs363043) showed significant associations with increased hyperactivity and symptom severity in ASD children.
Area of Science:
- Neuroscience
- Genetics
- Developmental Pediatrics
Background:
- Synaptosomal-associated protein of 25kD (SNAP-25) is crucial for synaptic vesicle exocytosis and calcium homeostasis.
- Alterations in calcium homeostasis are implicated in autism spectrum disorders (ASD).
- Previous research suggests a role for SNAP-25 in neuropsychiatric conditions.
Purpose of the Study:
- To investigate the potential involvement of SNAP-25 gene polymorphisms in ASD.
- To evaluate the association between SNAP-25 gene variants and clinical outcomes in ASD.
- To explore the link between SNAP-25 and calcium homeostasis in ASD pathophysiology.
Main Methods:
- Genotyping of five SNAP-25 gene polymorphisms in 67 children with ASD.
- Comparison of genetic data with 205 healthy sex-matched controls.
- Analysis of genotype associations with clinical outcomes, including CARS and hyperactivity scores.
Main Results:
- No significant overall differences in SNAP-25 polymorphisms were found between ASD patients and controls.
- A significant association was observed between the rs363043 (CT) genotype in intron 1 and increased Childhood Autism Rating Scale (CARS) scores (p=0.001).
- The rs363043 (CT) genotype was also significantly associated with higher hyperactivity scores (p=0.006).
Conclusions:
- SNAP-25 gene polymorphisms, particularly rs363043, are associated with symptom severity and hyperactivity in children with ASD.
- These findings support the hypothesis that altered neurotransmission and calcium homeostasis mechanisms contribute to ASD-associated behavioral impairments.
- Modulating SNAP-25 related pathways may offer potential therapeutic avenues for ASD.
Related Concept Videos
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,...
01:19Autism 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.
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%...
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01:28Human Genetics
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