Use of trabecular bone score (TBS) as a complementary approach to bone mineral density (BMD) in Gaucher disease patients treated with imiglucerase

Molecular Genetics and Metabolism(2018)

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Abstract
Micro (mi)RNA dysregulation is implicated in the development of myelodysplastic syndrome (MDS). Chromosomal abnormalities on 1q are frequently detected in Korean patients with MDS; however, how these are related to disease development is unknown. The present study compared the expression profiles of miRNAs encoded by chromosome 1q between 65 MDS patients and 11 controls. We found that miR-205-5p levels were 12.5 fold higher in the former (P = 0.001). miR-205-5p level was increased in 44.7% of patients when an arbitrary 2−ΔCt cut-off value of 1.25 was used. miR-205-5p expression data were used to generate a receiver operating characteristic (ROC) curve for miR-205-5p, for which the area under the curve (AUC) was 0.825 (95% confidence interval: 0.710–0.941; P = 0.001). Moreover, transfection with a miR-205-5p mimic induced cell proliferation by inhibiting the expression of the tumor suppressor protein phosphatase and tensin homolog (PTEN). Our findings suggest that miR-205-5p upregulation contributes to MDS by suppressing PTEN and that miR-205-5p thus acts as an oncogene in hematopoietic cells.
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Key words
gaucher disease patients,trabecular bone score,bone mineral density,imiglucerase
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