Oti̇zm spektrum bozukluğu hastalarinda hedef gen TMLHE ekspresyon profi̇li̇ni̇n i̇ncelenmesi̇

Although the etiopathogenesis of autism spectrum disorder (ASD) has not been fully understood, many studies emphasize the importance of genetic factors in ASD. It has been shown that these genetic factors are heterogeneous among cases and play a complex role in interacting with environmental factors that can modify the expression of genes responsible for neurodevelopment. In this study, we aimed to understand TMLHE expression profile and its correlation with ASD phenotype. Method: This study included a patient group of 100 participants who were fullfilling criterias for ASD according to DSM-V and a control group of 100 age and gender matched participants without diagnosis of ASD. Interviews with participants and their families were conducted and their sociodemographic data, disease severity and accompanying symptoms were evaluated. Blood samples were obtained from all patients and gene expression levels determined by Real Time PCR method. R and Statistical Program for Social Sciences (SPSS for Windows, 21.0) were used for statistical analyses. Results: Mean age of patient group was 111,33 ± 43,53 months and 87% were male and 13% were female; while mean age of control group was 110,56 ± 42,85 months and 85% were male and %15 were female. Groups did not differ significantly in terms of gender and age. According to results obtained from gene expression analysis, TMLHE gene expression was shown to be statistically significantly higher in patient samples compared to control samples. (patient mean=7,9, control mean=7,6, fold change=0,06).This may be explained by the fact that missense mutations, which do not affect expression in the cases, can be in the majority; possible posttranscriptional and posttranslational changes; all other factors that may change the gene expression level; and high gene expression as a possible compensatory result of low protein expression. Conclusion: Considering that there is no consensus data in the literature on the TMLHE gene expression profile, in our study, which may be a basis for further studies, investigating the expression 4 levels in terms of relationality with possible genetic changes, including the genomic and transcriptional changes of other nearby or co-expressed genes, the expression levels in tissues other than blood, the biochemical analysis of substrates in a larger sample will enhance our understanding of the genetic factors related to the etiology of autism. Key Words: Autism Spectrum Disorder, TMLHE, Gene Expression