[CD38 and autism spectrum disorders].

Area of Science:

• Neuroscience
• Genetics
• Biochemistry

Background:

• CD38, a transmembrane protein, regulates oxytocin (OXT) release crucial for social behavior.
• Disruption of CD38 in mice leads to impaired social recognition (social amnesia).

Purpose of the Study:

• Investigate the association between CD38 gene single nucleotide polymorphisms (SNPs) and autism spectrum disorder (ASD).
• Explore the potential of OXT as a therapeutic agent for ASD in individuals with CD38 mutations.

Main Methods:

• Analysis of CD38 SNPs (rs3796863 and rs1800561) in ASD patient cohorts.
• Measurement of plasma OXT levels in ASD subjects with and without the R140W CD38 mutation.
• Preliminary clinical trial of intranasal OXT in ASD subjects with the R140W allele.

Main Results:

• The CD38 SNP rs3796863 showed association with high-functioning autism in American and Israeli samples.
• The CD38 R140W mutation was identified in ASD probands and associated with lower OXT levels.
• Intranasal OXT treatment showed potential benefits in improving social behaviors and emotional regulation in some ASD subjects with the R140W allele.

Conclusions:

• CD38 gene variations may represent risk factors for ASD by disrupting OXT function.
• OXT therapy shows promise as a preliminary treatment for specific subgroups of ASD patients with CD38 mutations.