The roles of CC2D1A and HTR1A gene expressions in autism spectrum disorders.
Classical autism belongs to a group of heterogeneous disorders known as autism spectrum disorders (ASD). Autism is defined as a neurodevelopmental disorder, characterized by repetitive stereotypic behaviors or restricted interests, social withdrawal, and communication deficits. Numerous susceptibility genes and chromosomal abnormalities have been reported in association with autism but the etiology of this disorder is unknown in many cases. CC2D1A gene has been linked to mental retardation (MR) in a family with a large deletion before. Intellectual disability (ID) is a common feature of autistic cases. Therefore we aimed to investigate the expressions of CC2D1A and HTR1A genes with the diagnosis of autism in Turkey. Forty-four autistic patients (35 boys, 9 girls) and 27 controls were enrolled and obtained whole blood samples to isolate RNA samples from each participant. CC2D1A and HTR1A gene expressions were assessed by quantitative Real-Time PCR (qRT-PCR) in Genome and Stem Cell Center, Erciyes University. Both expressions of CC2D1A and HTR1A genes studied on ASD cases and controls were significantly different (p < 0.001). The expression of HTR1A was undetectable in the ASD samples. Comparison of ID and CC2D1A gene expression was also found statistically significant (p = 0.028). CC2D1A gene expression may be used as a candidate gene for ASD cases with ID. Further studies are needed to investigate the potential roles of these CC2D1A and HTR1A genes in their related pathways in ASD.
['Sener|Elif Funda|EF|', 'Cıkılı Uytun|Merve|M|', 'Korkmaz Bayramov|Keziban|K|', 'Zararsiz|Gokmen|G|', 'Oztop|Didem Behice|DB|', 'Canatan|Halit|H|', 'Ozkul|Yusuf|Y|']
D000067877:Autism Spectrum Disorder D016022:Case-Control Studies D002648:Child D002675:Child, Preschool D004268:DNA-Binding Proteins D005260:Female D015870:Gene Expression D056726:Genetic Association Studies D006801:Humans D008297:Male D044282:Receptor, Serotonin, 5-HT1A
CC2D1A HTR1A Expression Autism Autism spectrum disorders