Abeer Fakhr-Eldeen1,2, Eman A Toraih3,4, Manal S Fawzy5,6. 1. a Department of Clinical Pathology, Faculty of Medicine , Sohag University , Sohag , Egypt. 2. b Department of Pathology, Faculty of Medicine , Northern Border University , Arar , Saudi Arabia. 3. c Genetics Unit, Department of Histology and Cell Biology, Faculty of Medicine , Suez Canal University , Ismailia , Egypt. 4. d Center of Excellence of Molecular and Cellular Medicine , Suez Canal University , Ismailia , Egypt. 5. e Department of Biochemistry, Faculty of Medicine , Northern Border University , Arar , Saudi Arabia. 6. f Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine , Suez Canal University , Ismailia , Egypt.
Abstract
OBJECTIVES: Beta-thalassemia (β-thal) is one of the most common genetic disorders worldwide. Multiple genetic and epigenetic mechanisms could be implicated in the pathogenesis and/or phenotype variations. We sought to explore the serum expression profile of three disease-related long non-coding RNAs (lncRNAs) in a sample of Egyptian β-thal patients with correlation to the patients' clinicolaboratory data. METHODS: Fifty consecutive β-thal patients and 50 unrelated controls were enrolled in the study. Quantification of circulating lncRNAs; MALAT1 (metastasis-associated lung adenocarcinoma transcript 1), MIAT (myocardial infarction associated transcript), and ANRIL (antisense non-coding RNA in the INK4 locus) was done by Real-time qRT-PCR. RESULTS: Significant higher expression levels of the studied lncRNAs in β-thal patients compared to the controls (all P values < 0.001) were identified. There was no significant difference between β-thal-major and intermedia patients at the level of any of the studied lncRNAs. Higher MALAT1 expression profile was associated with early age at onset, early age at first blood transfusion, and a higher frequency of splenomegaly. Whereas, up-regulated MIAT levels were associated with early age at first blood transfusion. CONCLUSIONS: Taken together, the studied lncRNAs MALAT1, MIAT, and ANRIL might be implicated in β-thal pathogenesis and could provide new molecular biomarkers for β-thalassemia after validation in large-scale future studies.
OBJECTIVES:Beta-thalassemia (β-thal) is one of the most common genetic disorders worldwide. Multiple genetic and epigenetic mechanisms could be implicated in the pathogenesis and/or phenotype variations. We sought to explore the serum expression profile of three disease-related long non-coding RNAs (lncRNAs) in a sample of Egyptian β-thal patients with correlation to the patients' clinicolaboratory data. METHODS: Fifty consecutive β-thal patients and 50 unrelated controls were enrolled in the study. Quantification of circulating lncRNAs; MALAT1 (metastasis-associated lung adenocarcinoma transcript 1), MIAT (myocardial infarction associated transcript), and ANRIL (antisense non-coding RNA in the INK4 locus) was done by Real-time qRT-PCR. RESULTS: Significant higher expression levels of the studied lncRNAs in β-thal patients compared to the controls (all P values < 0.001) were identified. There was no significant difference between β-thal-major and intermedia patients at the level of any of the studied lncRNAs. Higher MALAT1 expression profile was associated with early age at onset, early age at first blood transfusion, and a higher frequency of splenomegaly. Whereas, up-regulated MIAT levels were associated with early age at first blood transfusion. CONCLUSIONS: Taken together, the studied lncRNAs MALAT1, MIAT, and ANRIL might be implicated in β-thal pathogenesis and could provide new molecular biomarkers for β-thalassemia after validation in large-scale future studies.
Authors: Eman A Toraih; Ahmed A Abdelghany; Noha M Abd El Fadeal; Essam Al Ageeli; Manal S Fawzy Journal: Graefes Arch Clin Exp Ophthalmol Date: 2019-07-20 Impact factor: 3.117
Authors: Nouran B AbdAllah; Essam Al Ageeli; Abdullah Shbeer; Jawaher A Abdulhakim; Eman A Toraih; Doaa O Salman; Manal S Fawzy; Sanaa S Nassar Journal: Int J Gen Med Date: 2022-07-20