Correlation Between Sialidase NEU1 mRNA Expression Changes in Autism Spectrum Disorder

Area of Science:

• Biochemistry
• Neuroscience
• Genetics

Background:

• Enzyme alterations in sialic acid metabolism are implicated in autism spectrum disorder (ASD).
• Sialidase (neuraminidase 1; NEU1) plays a key role in sialic acid modifications.
• Investigating NEU1 mRNA expression offers insights into ASD pathophysiology.

Purpose of the Study:

• To compare NEU1 mRNA expression in peripheral blood between children with ASD and healthy controls.
• To examine the correlation between NEU1 mRNA levels and behavioral phenotypes in ASD, assessed by the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2).

Main Methods:

• Quantitative reverse transcription polymerase chain reaction (RT-qPCR) was used to measure NEU1 mRNA expression.
• Peripheral blood samples were collected from 42 children with ASD and 42 healthy controls.
• ADOS-2 was administered to evaluate behavioral characteristics in children with ASD.

Main Results:

• NEU1 mRNA expression was significantly elevated in children with ASD compared to controls (P < 0.0001).
• A positive correlation was observed between NEU1 mRNA levels and overall ADOS-2 scores (R = 0.344, P = 0.0257).
• NEU1 mRNA expression positively correlated with the Social Affect (SA) domain of ADOS-2 (R = 0.3598, P = 0.0193), but not with Restricted and Repetitive Behaviors (RRB) (R = 0.15, P = 0.3432).

Conclusions:

• Sialidase NEU1 mRNA is significantly upregulated in children with ASD.
• Increased NEU1 mRNA expression is associated with social affect deficits in ASD.
• NEU1 may play a role in the social communication challenges observed in ASD, warranting further investigation.