Document Details

Document Type : Thesis 
Document Title :
THE INVESTIGATION OF POSSIBLE INTERACTION OF SMA-CAUSATIVE GENE SMN WITH RNA EXPORTER GLE1
بحث العلاقة المحتملة لمرض ضمور العضلات الفقري مع بروتين مرسول الناقل الريبوسومي GLE1
 
Subject : faculty of Applied Medical Sciences 
Document Language : Arabic 
Abstract : Introduction: Spinal Muscular atrophy (SMA) is one of the most common genetic causes of death in infants. It is a neurodegenerative disease affecting the lower motor neurons primarily due to a mutation or deletion of the survival motor neuron 1 (SMN1) gene. The SMN1 gene encodes for the multifunctional SMN protein, which has a critical role in the pre-mRNA splicing, transport, and translational control, hence enabling SMN to control the fate of mRNA. GLE1 protein plays a vital role in mRNA export through the nuclear pore complex (NPC) as it shuttles between the nucleus and the cytoplasm. The interaction and relationship between GLE1 and SMN are not well documented in the literature. The aim of the research was to investigate a possible association between GLE1 and SMN genes, by determining the expression of SMN, and GLE1 genes in cell lines of fibroblasts drived from SMA patients and normal controls. Materials and methods: Total RNA was extracted from purchased fibroblasts acquired from three SMA type I male patients ( 3 years old) and fibroblasts of three age-matched healthy males controls accounting to a total of 6 samples. The RNA was then subjected to qPCR analysis using primers specific for the GLE and SMN1 genes vs. GAPDH as internal control gene. Results: SMN1 mRNA levels were at least ten times lower in fibroblasts of SMA patients compared to controls. GLE1 gene expression was downregulated twice in SMA cells when compared to controls. We found a weak correlation between GLE1 gene expression level to the SMN1 at gene expression level of fibroblast cell lines of SMA type I patients (r = 0.354, p = 0.01) Conclusions: Our preliminary data shows an intriguing expression profile of GLE1 gene in SMA, and suggest an association between GLE1 and SMN gene, indicating a possible role of GLE1 protein in the SMA pathogenesis. 
Supervisor : Prof. Adeel Gulzar Chaudhary 
Thesis Type : Master Thesis 
Publishing Year : 1441 AH
2020 AD 
Co-Supervisor : Dr. Aziza Rashed Al-Rafiah 
Added Date : Thursday, January 23, 2020 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
عادل حمد عواجيAwaji, Adel HamadResearcherMaster 

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