Role of Neuralized1 and RGS14 Genes With ASD Patients
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 60
- 主要终点
- NEURL1 gene expression levels
研究概览
简要总结
Autism is a broad spectrum neurodevelopmental disease. Some individuals with ADS by high cognitive functions are diagnosed with High Functioning Autism (HFA). In some studies, it has been shown that NEURL1 gene increases learning and memory and RGS14 gene is suppressed them. We aimed to evaluate the differences between the expression levels of these genes between ASD, HFA and healthy controls and the role of these genes in the pathogenesis of ASD. Patients with 20 ASD and 20 HFA, and 20 healthy controls compatible with patient ages were included in this study. Expression of NEURL-1 and RGS14 genes was evaluated by quantitative Real Time PCR (qRT-PCR).
详细描述
ASD is a neurological disease starting in the early stages of life and is characterized by cognitive and behavioral disorders (Ansel et al., 2008;Alvares et al., 2020). It is considered that the etiology of ASD stems from genetic, epigenetic and environmental factors; however, it has not yet been definitively clarified(Ito et al., 2017).
we aimed to evaluate the differences between the expression levels of these genes between ASD, HFA and healthy controls and the role of these genes in the pathogenesis of ASD.
Method:
Patients with ASD (n=20) and HFA (n=20), and healthy controls (n=20) compatible with patient ages were included in this study. Clinical evaluations of the patients were made and classification was made in accordance with DSM-IV diagnostic criteria.
High Pure RNA Isolation Kit (Roche Diagnostic, Version 12, Germany) was used for RNA isolation. cDNA synthesis was performed from these RNAs with the ranscriptor High Fidelity cDNA Synthesis Kit (Roche Diagnostics, GmbH, Mannheim).
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 2 Years 至 16 Years（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Being diagnosed ASD or HFA patient,
- •Being between the ages of 2-16.
排除标准
- •To use medicine,
- •Have a other syndromic illness,
- •Being younger than 2 years old or over 16 years old.
结局指标
主要结局
NEURL1 gene expression levels
时间窗: Two months
After RNA isolation from blood samples of the subjects, NEURL1 gene expression was studied by QPCR method. The 2-ΔΔCT method was applied for the relative quantification of the samples that were normalized with ACTB.
RGS14 gene expression levels
时间窗: Two months
After RNA isolation from blood samples of the subjects, RGS14 gene expression was studied by QPCR method. The 2-ΔΔCT method was applied for the relative quantification of the samples that were normalized with ACTB.
次要结局
- Intellectual disability (ID)(an average of 1 year)
- Consanguinity(an average of 1 year)
- Gender(an average of 1 year)
- Presence of Neurological Disease in Relatives(an average of 1 year)
- Corelation tests(an average of 1 year")
- Age(an average of 1 year)
研究者
Yusuf Ozkul
Professor
TC Erciyes University