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Investigation of RhoA, ROCK1 and ROCK2 gene expressions in autism spectrum disorder

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2023
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Abstract (EN)

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that starts in early childhood and progresses with inadequacy in social communicative development, repetitive behaviors and limited interests. It is characterized by two main sets of symptoms, impaired social interaction and communication and repetitive or limited interests and behaviors. Studies show that; The Rho/Rho-kinase signaling pathway has an important role in synaptic structure and function, as it is one of the potent regulators of the actin skeleton. Disruption of any of the steps during the establishment of neuronal connections has important effects on brain development and function and can cause developmental disorders of the central nervous system ranging from Mental Retardation to Epilepsy, Autism and Schizophrenia. Therefore, any confusion in the Rho/Rho-kinase signaling pathway can trigger the emergence of disorders related to the structures and functions of the Central Nervous System. In this context, we aimed to investigate the effect of expression analysis of RhoA, ROCK1 and ROCK2 genes on Rho/Rho-kinase signaling pathway in Autism Spectrum Disorders. 82 individuals diagnosed with Autism Spectrum Disorder in Adıyaman Training and Research Hospital, Department of Child and Adolescent Psychiatry, and 82 healthy individuals without a family history of Autism Spectrum Disorder, taking into account the gender and age group of the patients in the experimental group, were included in the study. In this study, the expression levels of RhoA, ROCK1 and ROCK2 genes, which play a role in the Rho/Rho-kinase signaling pathway, were determined by taking blood samples from patient and control individuals. The expression level of RhoA, ROCK1 and ROCK2 genes were analyzed in Real-time PCR using the comparative ΔΔCT method. Of the 82 individuals in the Autism Spectrum Disorder group, 54 (65.9%) were male and 28 (31.2%) were female, and the mean age of the Autism Spectrum Disorder group was 7.74±4.35. Autism Spectrum Disorder is more common in male gender (p<0.001). RhoA gene expression level is lower in patients with autism spectrum disorder (p<0.001). Rho/Rho-kinase signaling pathway genes are genetically linked to the RhoA, ROCK1 and ROCK2 genes, which play a role in the Rho/Rho-kinase signaling pathway, are associated with other neuropsychiatric diseases, their effects on neurodevelopmental processes, and their share of neurocognitive defects such as impaired executive function and social functionality seen in these neuropsychiatric diseases. clusters may reflect the possibility of Autism Spectrum Disorder. This may provide an effective approach to classify the disease according to its pathophysiology and gene expression criteria.

Author

Emine Merve Kalınlı

How to Cite

Emine Merve Kalınlı (Doctorate thesis). Investigation of RhoA, ROCK1 and ROCK2 gene expressions in autism spectrum disorder, 2023, Mersin University.

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