Investigation of RhoA, ROCK1, and ROCK2 Gene Expressions in Autism Spectrum Disorders.

OBJECTIVE

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that emerges in early childhood and is characterized by difficulties in social communication, repetitive behaviors, and restricted interests. The Ras homolog (Rho)/Rho-kinase signaling pathway plays a critical role in maintaining synaptic structure and function, as it regulates the actin cytoskeleton. This study aims to investigate the expression of the Ras homolog (Rho) family member A (), Rho-kinase 1 (), and Rho-kinase 2 () genes within this pathway in relation to ASD.

METHODS

The study included 82 individuals diagnosed with ASD from the Adıyaman Training and Research Hospital's Department of Child and Adolescent Psychiatry and 82 healthy individuals without a family history of ASD, matched for gender and age. RNA isolation and complementary DNA (cDNA) extraction for , , and genes were performed from blood samples of the patient and control groups. The , , and gene expression levels were analyzed by real-time polymerase chain reaction (PCR) using the comparative CT (ΔΔCT) method.

RESULTS

Of the 82 individuals in the ASD group, 54 (65.9%) were male, and 28 (34.1%) were female, with a mean age of 7.74 ± 4.35 years. ASD is more common in males (p < 0.001). RhoA gene expression level is lower in patients with ASD (p < 0.001).

CONCLUSION

The Rho/Rho-kinase signaling pathway genes, including , , and , play roles in the neurodevelopmental processes. The lower expression level of RhoA in the ASD group may suggest that these genes could serve as potential biomarkers for the disorder. Further research is needed to explore these genetic markers' roles and their potential as therapeutic targets in ASD treatment.