Abstract
ABSTRACTObjectives: 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.
Highlights
Taken together, the studied long non-coding RNAs (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
Differentiation between types of beta thalassemia was carried out according to the clinical severity and the blood transfusion requirments into blood transfusion-dependent thalassemia and blood transfusion-independent thalassemia which will be referred to thalassemia major (TM) and thalassemia intermediate, respectively in the current study [25]
In the present preliminary case–control study, for the first time we assessed the association of the expression profile of three speculated disease-related lncRNAs; MALAT1, MIAT, and ANRIL with β-thal and found that all the studied lncRNAs were significantly upregulated in β-thal patients compared with healthy controls
Summary
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. Beta-thalassemia (β-thal) is one of the most common genetic disorders worldwide. We sought to explore the serum expression profile of three diseaserelated 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. 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. Up-regulated MIAT levels were associated with early age at first blood transfusion
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