Document Details

Document Type : Thesis 
Document Title :
Analysis of DNA Methylation Level and Transcription Factor Binding Site of Promoter Region in Acyl-CoA Synthetase Family Member 3 )ACSF3( Gene in Autistic Children
تحليل مستوى مثيلة الحمض النووي ومواقع ارتباط عوامل النسخ لمنطقة البروموتر في عائلة اسيل كو أي في أطفال التوحد
 
Subject : Faculty of Science 
Document Language : Arabic 
Abstract : The regulation of gene expression influenced by DNA methylation (DNAm) and transcription factors (TFs). DNAm is the most studied mechanism of epigenetic, which affect gene expression without changing the underlying DNA sequence. Aberrant DNAm implicated in different human diseases such as cancer, bipolar disorder, and autism spectrum disorder (ASD). ASD is a neurodevelopmental disorder that affect a person’s behavior and his learning and communication skills. ACSF3 gene implicated in combined malonic and methylmalonic aciduria which associated with neurological symptoms such as memory problems, psychiatric disease and/or cognitive decline in the long-run. Many studies revealed that methylation levels of the promoter regions of ACSF3 play a critical role on its expression. This study aimed to determine the role of DNAm in the transcription factor binding site of ACSF3 in Saudi autistic children. RT-qPCR was used to determine the expression level of ACSF3 and its potential transcription factor (SP1) while DNA methylight-qPCR was applied to detect the DNAm level in the promoter region of ACSF3 in 19 cases of ASD children and 19 samples from their healthy-siblings to analyze whether the DNAm status of TF-binding site is a cause or a consequence of transcription regulation of ACSF3. In addition, analyzing the sequence of the promoter region of ACSF3 that contains binding sites for SP1 was applied to detect the possible mutation of TF-binding site. The results of methylight PCR didn’t determine any methylation pattern in the promoter region of ACSF3, whereas the results of the gene expression revealed that the expression level of ACSF3 in ASD patients was moderately positively correlated with the expression level of SP1. Moreover, the analyzed sequences of the samples were similar to each other, but none have been similar to the sequence in NCBI-BLAST and mutations have been found in the SP1 binding site which might be due to genetic variation that related to population. Although this study does not confirm the role of DNAm in the target region of ACSF3 promoter, further research is needed to assess the effects of DNAm on the ACSF3 expression in ASD via using another new technique that measures DNAm levels at a large scale 
Supervisor : Dr. Khloud Algothmi 
Thesis Type : Master Thesis 
Publishing Year : 1443 AH
2022 AD 
Co-Supervisor : Dr. Safiah Alhazmi 
Added Date : Monday, January 16, 2023 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
أمل محمد القرشيAl-Qurashi, Amal MohammedResearcherMaster 

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