Otizm Spektrum Bozukluğu Olan Hastalarda Öğrenme ve Hafıza Bozukluklarının NEURL1 ve RGS14 Genleri ile İlişkisi

Abstract

Amaç: Bu çalışmada OSB hastalarında öğrenme ve hafıza güçlükleri ile NEURL1 ve RGS14 genleri arasındaki ilişkiyi değerlendirmeyi amaçladık.

Yöntem: Bu çalışmaya OSB'li 40 çocuk (20 OSB, 20 yüksek fonksiyonlu otizm (HFA)) ve 20 sağlıklı kontrol dahil edildi. Gönüllülerin kan örneklerinde NEURL1 ve RGS14 genlerinin ekspresyonları kantitatif Real-Time PCR (qRT-PCR) yöntemi ile değerlendirildi. Hastalardaki klinik ve demografik bulgular belirlenerek gen ekspresyonları ile ilişkisi incelendi.

Bulgular: Bulgularımıza göre her iki hasta grubunda da kontrol grubuna göre NEURL1 gen ekspresyonu azaldı (p<0.05). RGS14 geni açısından gruplar arasında anlamlı fark yoktu (p>0.05). HFA hastalarında öğrenme ve bellek güçlükleri ile RGS14 gen ekspresyonu arasında istatistiksel olarak anlamlı bir ilişki bulundu (p = 0.045). OSB hastalarının NEURL1 ve RGS14 gen ekspresyonları arasında pozitif korelasyon görüldü (p=0.032, r=0,59).

Sonuç: Bu çalışmada NEURL1 geninin OSB hastalarında öğrenme ve hafıza güçlüğünü etkileyebileceğini gösterdik. Ancak, her iki genin daha fazla hasta ve tercihen beyin dokuları ile çalışılmasını öneriyoruz. Bu genler ilk kez otizmle ilgili bir klinik çalışmada değerlendirilmiştir, bu açıdan literatüre katkı sağlayacağına inanıyoruz.

Keywords

• Otizm
• NEURL1
• RGS14
• Öğrenme
• Hafıza

The relationship of learning and memory disfunction with NEURL1 and RGS14 genes in patients with autism spectrum disorders

Abstract

Aim: We aimed to evaluate the relationship between learning-memory difficulties and NEURL1 and RGS14 genes in patients with autism spectrum disorders (ASD).

Method: Forty children with ASD (20 ASD, 20 high functioning autism (HFA)) and 20 healthy controls were enrolled in this study. NEURL1 and RGS14 gene expressions in blood samples of volunteers were assessed by quantitative Real-Time PCR (qRT-PCR). The clinical and demographical findings in patients were determined and examined in relation to the gene expressions.

Results: According to our findings, NEURL1 gene expression was decreased in both patient groups compared to the control (p<0.05). No significant difference between the groups in terms of the RGS14 gene (p>0.05). A statistically significant correlation was found between learning and memory difficulties and RGS14 gene expression in HFA patients (p=0.045). A positive correlation was observed between NEURL1 and RGS14 gene expressions of ASD patients (p=0.032, r=0,59).

Conclusion: In this study, we showed that the NEURL1 gene may affect learning and memory difficulties in ASD patients. Nonetheless, we recommend that both genes be studied with more patients and preferably with brain tissues. These genes were evaluated for the first time in a clinical study on autism, and we believe that they will contribute to the literature in this respect. 

Keywords

• Autism
• Neuralized1
• RGS14
• Learning
• Memory

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