Nrg1 expression changes in autism spectrum disorder and play role in executive functions abnormalities

Soha Sadeghi,1 Arvin haghighatfard,2,*

1. Nour Danesh Institute Of Higher Education
2. Department of biology,Tehran north branch, Islamic Azad University, Tehran, Iran

Abstract


Introduction

Autism spectrum disorder (asd) is a pediatric heterogeneous psychiatric and neurodevelopment disorder with social and communication deficits, language impairment and ritualistic or repetitive behaviors. asd has significant genetic bases but candidate genes and molecular mechanisms of disorder are not clarified. neuroglian1 (nrg1) gene, located in 8p12 is involved in development of central nervous system and indicated as candidate gene in schizophrenia.

Methods

We studied expression of types i, ii and iii of nrg1 gene in peripheral blood of 267 asd patients (iq>70) and 190 normal children by quantitative real time pcr. also three domains of executive functions (working memory, response inhibition and vigilance) examined in all subjects.

Results

All three types were significantly down regulated in asd patients. also expression of type iii was significantly down expressed in asperger patients in compare with other patients. significant deficiencies in executive functions (ef) were found in asd patients. ef deficiencies were significantly correlated to down expression of types i and iii.

Conclusion

This is the first study of nrg1 role in asd. we presented nrg1 expression as a potential biomarker for asd which also play role in executive function deficiencies. down expression of nrg1 types could be consequences of decrease in neural activity. our results confirmed shared genetic bases of autism and schizophrenia.

Keywords

autism spectrum disorder, nrg1, gene expression, executive functions