Investigation of MACROD2 expression profile in patients with autism spectrum disorder

Background and Aim: Pathogenetic mechanisms involved in ASD etiology has not been fully understood. Genetic mechanism underlying ASD is complex and heterogenous as its clinical heterogenitiy, including single gene disorders to polygenic mechanisms to epigenetic alterations. In this study, we aimed to understand MACROD2 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 andtheir 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.MACROD2 gene expression were almost two-fold decreased in patient group (0,845) compared to control group (3,332) (Fold Change=-1,979). Though, this finding were not significant statistically (p=0,250). This may be due to MACROD2 may play a role in the etiology of autism in only some of patients and/or genetic variants in MACROD2 may play a regulatory role on transcription of other nearby genes rather than MACROD2. Conclusion: MACROD2 gene's expression profile is not fully identified and understood throughout lifetime and tissues. This study may serve as a basis for future research investigating MACROD2 expression profile associating its genetic variants and nearby other genes and their expression profiles in autism. Key Words: Autism Spectrum Disorder, MACROD2, Macro Domain Family, Gene Expression