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Document Type |
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Thesis |
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Document Title |
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THE ASSOCIATION OF SPINAL MUSCULAR ATROPHY CAUSATIVE GENE SMN AND MATR-3 PROTEIN علاقة الجين المسبب لضمور العضلات الفقري (عصب البقاء الحركي واحد) بالبروتين ماتر ثلاثة |
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Subject |
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Faculty of Applied Medical Sciences |
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Document Language |
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Arabic |
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Abstract |
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Spinal muscular atrophy (SMA) is one of the most common genetic causes of death in infancy that primarily affects the lower motor neurons, leading to muscle death. SMN has also been shown to be implicated in mRNA transport and translational control. These findings suggest that SMN plays a pivotal role in mRNA processing. Aside from SMN1, other genes encoding for mRNA processing proteins, such as GLE1, MATR3, and FUS, have been linked to motor neuron diseases, but their role in SMA has not yet been extensively studied. Here, we studied the differential expression of MATR3 and FUS in skin fibroblasts of an SMA patient and a healthy control. The findings in this study will further our understanding on the pathogenesis of SMA. Total RNA was extracted from skin fibroblasts derived from an SMA type I patient and an age-matched control. The RNA was then subjected to RT-qPCR analysis to determine the expression levels of MATR3, FUS and SMN genes. Consistent with earlier studies, SMN mRNA levels appeared to be lower in the SMA patient compared to the control. Interestingly, MATR3 was shown to be downregulated, while FUS was upregulated in the SMA patient compared to the control. Our preliminary data show an intriguing expression profile of MATR3 and FUS genes in SMA. Therefore, it is imperative to further investigate the role of these genes in the pathogenesis of SMA. |
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Supervisor |
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Dr. Kalthoom Ali Al-Sakaf |
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Thesis Type |
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Master Thesis |
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Publishing Year |
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1439 AH
2018 AD |
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Added Date |
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Monday, May 28, 2018 |
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Researchers
| عقيل محمد عقيل | Aqeel, Aqeel Mohammed | Researcher | Master | |
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